Hum. Mol. Genet. -- Table of Contents (2 [10] )

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Contents: Volume 2, Number 10   October 1993   [Index by Author]

       COMMENTARY

       ORIGINAL ARTICLE

       SHORT COMMUNICATIONS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS

       Author index

       Corrigendum

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COMMENTARY:

Huntington F. Willard: The inv(16) in acute nonlymphocytic leukemia: a turnabout for myosin heavy chain
Hum. Mol. Genet. 1993 2: 1525-1526; doi:10.1093/hmg/2.10.1525 [PDF] [Request Permissions]

ORIGINAL ARTICLE:

J.G. Dauwerse, J.W. Wessels, R.H. Giles, J. Wiegant, B.A. van der Reijden, G. Fugazza, E.A. Jumelet, E. Smit, F. Baas, A.K. Raap, A. Hagemeijer, G.C. Baverstock, G.J.B. van Ommen, and M.H. Breuning: Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo
Hum. Mol. Genet. 1993 2: 1527-1534; doi:10.1093/hmg/2.10.1527 [Abstract] [PDF] [Request Permissions]

H. Telenius, H.P.H. Kremer, J. Thellmann, S.E. Andrew, E. Almqvist, M. Anvret, C. Greenberg, J. Greenberg, G. Lucotte, F. Squltierl, A. Starr, Y.P. Goldberg, and M.R. Hayden: Molecular analysis of juvenile Huntington disease: the major influence on (CAG)_n repeat length is the sex of the affected parent
Hum. Mol. Genet. 1993 2: 1535-1540; doi:10.1093/hmg/2.10.1535 [Abstract] [PDF] [Request Permissions]

Blaoyang Lin, Johanna M. Rommens, Rona K. Graham, Michael Kalchman, Helen MacDonald, Jamal Nasir, Allen Delaney, Y. Paul Goldberg, and Michael R. Hayden: Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression
Hum. Mol. Genet. 1993 2: 1541-1545; doi:10.1093/hmg/2.10.1541 [Abstract] [PDF] [Request Permissions]

O.Collin Stine, Nicole Pleasant, Mary L. Franz, Margaret H. Abbott, Susan E. Folstein, and Christopher A. Ross: Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15
Hum. Mol. Genet. 1993 2: 1547-1549; doi:10.1093/hmg/2.10.1547 [Abstract] [PDF] [Request Permissions]

Jeremy P. Cheadle, Mary C. Goodchild, and Alison L. Meredith: Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales
Hum. Mol. Genet. 1993 2: 1551-1556; doi:10.1093/hmg/2.10.1551 [Abstract] [PDF] [Request Permissions]

Claude Férec, Claudine Verlingue, Hervé Gulllermit, Isabelle Quéré, Odile Raguénès, Jean Feigelson, Marie-Plerre Audrézet, Philippe Moullier, and Bernard Mercier: Genotype analysis of adult cystic fibrosis patients
Hum. Mol. Genet. 1993 2: 1557-1560; doi:10.1093/hmg/2.10.1557 [Abstract] [PDF] [Request Permissions]

Wanda K. O'Neal, Paul Hasty, Paul B. McCray, Jr, Brett Casey, Jalme RiveraPérez, Michael J. Welsh, Arthur L. Beaudet, and Allan Bradley: A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus
Hum. Mol. Genet. 1993 2: 1561-1569; doi:10.1093/hmg/2.10.1561 [Abstract] [PDF] [Request Permissions]

Niels Tommerup, Lissi Aagaard, Connie L. Lund, Esper Boel, Sarah Baxendale, Gillian P. Bates, Hans Lehrach, and Henrik Vissing: A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome
Hum. Mol. Genet. 1993 2: 1571-1575; doi:10.1093/hmg/2.10.1571 [Abstract] [PDF] [Request Permissions]

Stephanie Halford, David I Wilson, Sara C.M. DAW, Cathrine Roberts, Roy Wadey, Shalan Kamath, Amal Wickremasinghe, John Burn, Judith Goodship, Marie-Genevieve Mattel, F.M. Moormon, and Peter J. Sclambler: Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
Hum. Mol. Genet. 1993 2: 1577-1582; doi:10.1093/hmg/2.10.1577 [Abstract] [PDF] [Request Permissions]

Muriel Aubry, Suzanne Demczuk, Chantal Desmaze, Mourad Alkem, Alain Aurias, Jean-Pierre Jullen, and Guy A. Rouleau: Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome
Hum. Mol. Genet. 1993 2: 1583-1587; doi:10.1093/hmg/2.10.1583 [Abstract] [PDF] [Request Permissions]

Frank Larsen, Jorun Solheim, Tom Kristensen, Anne-Brit Kolstø, and Hans Prydz: A tight cluster of five unrelated human genes on chromosome 16q22.1
Hum. Mol. Genet. 1993 2: 1589-1595; doi:10.1093/hmg/2.10.1589 [Abstract] [PDF] [Request Permissions]

Mark Alkema, Joop Wiegant, Anton K. Raap, Anton Bems, and Maarten van Lohuizen: Characterization and chromosomal localization of the human proto-oncogene BMI-1
Hum. Mol. Genet. 1993 2: 1597-1603; doi:10.1093/hmg/2.10.1597 [Abstract] [PDF] [Request Permissions]

Lucy R. Osborne, Michael Lynch, Peter G. Middleton, Eric W.F.W. Alton, Duncan M. Geddes, John P Pryor, Margaret E. Hodson, and George K. Santis: Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
Hum. Mol. Genet. 1993 2: 1605-1609; doi:10.1093/hmg/2.10.1605 [Abstract] [PDF] [Request Permissions]

Gillian M. Grelg, Cecll B. Sharp, Laura Carrel, and Huntington F. Willard: Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies
Hum. Mol. Genet. 1993 2: 1611-1618; doi:10.1093/hmg/2.10.1611 [Abstract] [PDF] [Request Permissions]

D.R. Dunbar, P.A. Moonie, R.J. Swingler, D. Davidson, R. Roberts, and I.J. Holt: Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus
Hum. Mol. Genet. 1993 2: 1619-1624; doi:10.1093/hmg/2.10.1619 [Abstract] [PDF] [Request Permissions]

K.Ben Othmane, F. Hentatl, F. Lennon, C.Ben Hamida, S. Blel, A.D. Roses, M.A. Pericak-Vance, M.Ben Hamida, and J.M. Vance: Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
Hum. Mol. Genet. 1993 2: 1625-1628; doi:10.1093/hmg/2.10.1625 [Abstract] [PDF] [Request Permissions]

Keiji Tamakl, Darren G. Monckton, Annette MacLeod, Maxine Allen, and Alec J. Jeffreys: Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8
Hum. Mol. Genet. 1993 2: 1629-1632; doi:10.1093/hmg/2.10.1629 [Abstract] [PDF] [Request Permissions]

Jan P. Kraus, Kim Le, Manju Swaroop, Toshihiro Ohura, Takahiro Tahara, Leon E. Rosenberg, Michael D. Roper, and Viktor Kozlch: Human cystathionine ß-synthase cDNA: sequence, alternative splicing and expression in cultured cells
Hum. Mol. Genet. 1993 2: 1633-1638; doi:10.1093/hmg/2.10.1633 [Abstract] [PDF] [Request Permissions]

Helen E. Trowell, Adam Nagy, Bryce Vissel, and K.H. Andy Choo: Long-range analyses of the centromeric regions of human chromosomes 13, 14 and 21: identification of a narrow domain containing two key centromeric DNA elements
Hum. Mol. Genet. 1993 2: 1639-1649; doi:10.1093/hmg/2.10.1639 [Abstract] [PDF] [Request Permissions]

Oxana Ibraghimov-Beskrovnaya, Athena Milatovich, Tayfun Ozcelik, Bin Yang, Kevin Koepnick, Uta Francke, and Kevin P. Campbell: Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization
Hum. Mol. Genet. 1993 2: 1651-1657; doi:10.1093/hmg/2.10.1651 [Abstract] [PDF] [Request Permissions]

Lan K. Hornstra, David L. Nelson, Stephen T. Warren, and Thomas P. Yang: High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
Hum. Mol. Genet. 1993 2: 1659-1665; doi:10.1093/hmg/2.10.1659 [Abstract] [PDF] [Request Permissions]

Cisca Wijmenga, Tracy J. Wright, Mark J Baan, George W. Padberg, Robert Williamson, Gert-Jan B. van Ommen, Jane Hewitt, Marten H. Hofker, and Rune R. Frants: Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region
Hum. Mol. Genet. 1993 2: 1667-1672; doi:10.1093/hmg/2.10.1667 [Abstract] [PDF] [Request Permissions]

Tracy J. Wright, Cisca Wijmenga, Lorraine N. Clark, Rune R. Frants, Robert Williamson, and Jane E. Hewitt: Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11
Hum. Mol. Genet. 1993 2: 1673-1678; doi:10.1093/hmg/2.10.1673 [Abstract] [PDF] [Request Permissions]

N.S.T. Thomas, J. Chelly, J. Zonana, K.J.P. Davies, S. Morgan, J. Gault, K.A. Rack, V.J. Buckle, N. Brockdorff, A. Clare, and A. Monaco: Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)
Hum. Mol. Genet. 1993 2: 1679-1685; doi:10.1093/hmg/2.10.1679 [Abstract] [PDF] [Request Permissions]

Aracell del Arco, Juan Garcia, Carmen Arribas, Rosa Barrio, Martin G. Blázquez, José Izquierdo, and Marta Izquierdo: Timing of p53 mutations during astrocytoma tumorigenesis
Hum. Mol. Genet. 1993 2: 1687-1690; doi:10.1093/hmg/2.10.1687 [Abstract] [PDF] [Request Permissions]

Michael B. Patersen, Stylianos E. Antonarakis, Terry J. Hassold, Sallle B. Freeman, Stephanie L. Sherman, Dimitrios Avramopoulos, and Margareta Mikkelsen: Paternal nondisjunction in trisomy 21: excess of male patients
Hum. Mol. Genet. 1993 2: 1691-1695; doi:10.1093/hmg/2.10.1691 [Abstract] [PDF] [Request Permissions]

Kevin G. Becker, Gary Swergold, Kelko Ozato, and Ronald E. Thayer: Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element
Hum. Mol. Genet. 1993 2: 1697-1702; doi:10.1093/hmg/2.10.1697 [Abstract] [PDF] [Request Permissions]

Per Guldberg, Valentino Romano, Nadia Ceratto, Paolo Bosco, Marina Cluna, Anna Indellcato, Florindo Mollica, Cettina Mell, Marcello Glovannini, Enrica Riva, Glacomo Biasuccl, Karen Frils Henriksen, and Flemming Güttler: Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe
Hum. Mol. Genet. 1993 2: 1703-1707; doi:10.1093/hmg/2.10.1703 [Abstract] [PDF] [Request Permissions]

SHORT COMMUNICATIONS:

Seven D. Colman, Francis S. Collins, and Margaret R. Wallace: Characterization of a single base-pair deletion in neurofibromatosis type 1
Hum. Mol. Genet. 1993 2: 1709-1711; doi:10.1093/hmg/2.10.1709 [Abstract] [PDF] [Request Permissions]

David C. Rubinsztein, David E. Barton, B.C.Clare Davison, and Malcolm A. Ferguson-Smith: Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
Hum. Mol. Genet. 1993 2: 1713-1715; doi:10.1093/hmg/2.10.1713 [PDF] [Request Permissions]

Thomas W. Glover, Vera Verga, Jill Rafael, Christine Barcroft, Jerome L. Gorski, Erawati V. Bawle, and James V. Higgins: Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323
Hum. Mol. Genet. 1993 2: 1717-1718; doi:10.1093/hmg/2.10.1717 [PDF] [Request Permissions]

Pauline A.M. Roest, Roland G. Roberts, Shigeto Sugino, Gert-Jan B. van Ommen, and Johan T. den Dunnen: Protein truncation test (PTT) for rapid detection of translation-terminating mutations
Hum. Mol. Genet. 1993 2: 1719-1721; doi:10.1093/hmg/2.10.1719 [Abstract] [PDF] [Request Permissions]

Rosalia Ruiz-Pacheco, Gérard Cuny, Serglo Bernasconl, Robert Dumas, Gérard Rolzes, and Charies Sultan: Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency
Hum. Mol. Genet. 1993 2: 1723-1725; doi:10.1093/hmg/2.10.1723 [PDF] [Request Permissions]

MUTATION REPORTS:

Z.-Y. Chen, E.M. Battinelli, G. Woodruff, I. Young, X.O. Breakfield, and I.W. Craig: Characterization of a mutation within the NDP gene in a family with a manifesting female carrier
Hum. Mol. Genet. 1993 2: 1727-1729; doi:10.1093/hmg/2.10.1727 [PDF] [Request Permissions]

Johanna C. Moolman, Paul A. Brink, and Valerie A. Corfield: Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the ß-myosin heavy chain gene in hypertrophic cardiomyopathy
Hum. Mol. Genet. 1993 2: 1731-1732; doi:10.1093/hmg/2.10.1731 [PDF] [Request Permissions]

José Mejia, Khalid Lahsaini, Marie-Marthe Tongio, and Georges Hauptmann: Screening for polymorphism in the tyrosine-sulfated region of human C4
Hum. Mol. Genet. 1993 2: 1733-1734; doi:10.1093/hmg/2.10.1733 [PDF] [Request Permissions]

Xue-Fan Gu, Felix de Rooij, Ellen de Baar, Marc Bruyland, Willy Lissens, Yves Nordmann, and Bernard Grandchamp: Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria
Hum. Mol. Genet. 1993 2: 1735-1736; doi:10.1093/hmg/2.10.1735 [PDF] [Request Permissions]

Andrew J Walley and Ann Harris: A novel point mutation (D380A) and a rare deletion (1255deI55) in the glucocerebrosidase gene causing Gaucher's disease
Hum. Mol. Genet. 1993 2: 1737-1738; doi:10.1093/hmg/2.10.1737 [PDF] [Request Permissions]

L. Saba, G.B. Leoni, A. Meloni, V. Faà, A. Cao, and M.C. Rosatelli: Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent
Hum. Mol. Genet. 1993 2: 1739-1740; doi:10.1093/hmg/2.10.1739 [PDF] [Request Permissions]

Miguel Chillón, Teresa Casals, Virginia Nunes, Javier Giménez, Estela Pérez Rulz, and Xavier Estivill: Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype
Hum. Mol. Genet. 1993 2: 1741-1742; doi:10.1093/hmg/2.10.1741 [PDF] [Request Permissions]

K.E. Morrison, R.J. Daniels, L. Campbell, J. McPherson, and K.E. Davies: Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681
Hum. Mol. Genet. 1993 2: 1753; doi:10.1093/hmg/2.10.1753 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Jun Lu, Robyn Riley, Margaret Robertson, Lesa Nelson, and Kenneth Ward: Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q
Hum. Mol. Genet. 1993 2: 1743; doi:10.1093/hmg/2.10.1743 [PDF] [Request Permissions]

Assumpció Bosch, Stefan Wiemann, Guimer{acute} Jordi, Wilhalm Ansorge, David Partterson, and Xavier Estivill: Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235)
Hum. Mol. Genet. 1993 2: 1744; doi:10.1093/hmg/2.10.1744 [PDF] [Request Permissions]

Y. Shen, K. Holman, N.A. Doggett, D. F. Callen, G.R. Sutherland, and R.I. Richards: Four dinucleotide repeat polymorphisms on human chromosome 16
Hum. Mol. Genet. 1993 2: 1745; doi:10.1093/hmg/2.10.1745 [PDF] [Request Permissions]

Deborah Loeb, Wango Lui, David I Smith, and Jeffery M. Vance: Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25
Hum. Mol. Genet. 1993 2: 1746; doi:10.1093/hmg/2.10.1746 [PDF] [Request Permissions]

Eitan Friedman, Emma Carson, Catharina Larsson, and Luiz DeMarco: A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene
Hum. Mol. Genet. 1993 2: 1746; doi:10.1093/hmg/2.10.1746-a [PDF] [Request Permissions]

Carola J.M. Bontekoe, Esther de Graaff, Guido J. Breedveld, Ben A. Oostra, and Peter Heutink: Dinucleotide repeat polymorphism at D11S994 locus
Hum. Mol. Genet. 1993 2: 1747; doi:10.1093/hmg/2.10.1747 [PDF] [Request Permissions]

Susanne Abels, Jeanette Erdmann, and Markus Nöthen: Dinucleotide repeat polymorphism at the D18S365 locus
Hum. Mol. Genet. 1993 2: 1747; doi:10.1093/hmg/2.10.1747-a [PDF] [Request Permissions]

Luciana A. Haddad and Sergio D.J. Pena: CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D1 3S308)
Hum. Mol. Genet. 1993 2: 1748; doi:10.1093/hmg/2.10.1748 [PDF] [Request Permissions]

M.J.P.L. Kroef, R. Williemze, and J.E. Landegent: Dinucleotide repeat polymorphism in the interferon regulating factor 1 (IRF1) gene
Hum. Mol. Genet. 1993 2: 1748; doi:10.1093/hmg/2.10.1748-a [PDF] [Request Permissions]

J. Sainz, M. Rasmussen, A. Nechiporuk, H. Vissing, X. Cheng, J.R. Korenberg, and S.M. Pulst: Dinucleotide repeat polymorphism at the D22S351 locus
Hum. Mol. Genet. 1993 2: 1749; doi:10.1093/hmg/2.10.1749 [PDF] [Request Permissions]

I. Pata and A. Metspalu: A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene
Hum. Mol. Genet. 1993 2: 1749; doi:10.1093/hmg/2.10.1749-a [PDF] [Request Permissions]

F.M. Richards, F. Latif, M.I. Lerman, B. Zbar, and E.R. Maher: Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL)
Hum. Mol. Genet. 1993 2: 1750; doi:10.1093/hmg/2.10.1750 [PDF] [Request Permissions]

A. Braun, A. Kofler, R. Bichlmaier, S. Kammerer, and H. Cleve: A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene
Hum. Mol. Genet. 1993 2: 1750; doi:10.1093/hmg/2.10.1750-a [PDF] [Request Permissions]

Kouzin Kamino, Jun Nakura, Koichi Kihara, Lin Ye, Keiko Nagano, Tohru Ohta, Yoshihiro Jinno, Norio Niikawa, Tetsuro Miki, and Toshio Ogihara: Population variation in the dinucleotide repeat polymorphism at the D8S360 locus
Hum. Mol. Genet. 1993 2: 1751; doi:10.1093/hmg/2.10.1751 [PDF] [Request Permissions]

C.-W. Fu, L. Anderson, and G. Schellenberg: Dinucleotide repeat polymorphism at the D14S294 locus
Hum. Mol. Genet. 1993 2: 1751; doi:10.1093/hmg/2.10.1751-a [PDF] [Request Permissions]

Barbara C. Byth, Joost C.M. Meijers, and Diane W. Cox: A (CA)_n repeat polymorphism in the protein C inhibitor (PCI) gene
Hum. Mol. Genet. 1993 2: 1752; doi:10.1093/hmg/2.10.1752 [PDF] [Request Permissions]

Barbara C. Byth and Diane W. Cox: A (CA)_n repeat polymorphism at the 5' end of the ${alpha}$ ₁antitrypsin gene (PI)
Hum. Mol. Genet. 1993 2: 1752; doi:10.1093/hmg/2.10.1752-a [PDF] [Request Permissions]

Pieter A.v.d. Velden and Pieter H. Reitsma: Amino acid dimorphism in IL1A is detectable by PCR amplification
Hum. Mol. Genet. 1993 2: 1753; doi:10.1093/hmg/2.10.1753-a [PDF] [Request Permissions]

Andreas Leutner, Jutta Schönling, Nigel K. Spurr, and Brunhilde Wirth: Dinucleotide repeat polymorphism at the D12S371 locus
Hum. Mol. Genet. 1993 2: 1754; doi:10.1093/hmg/2.10.1754 [PDF] [Request Permissions]

Elke Pick, Andreas Leutner, Nigel K. Spurr, and Brunhilde Wirth: Dinucleotide repeat polymorphism at the D5S214 locus
Hum. Mol. Genet. 1993 2: 1754; doi:10.1093/hmg/2.10.1754-a [PDF] [Request Permissions]

L.J. Hardwick, J. Brown, and A.F. Wright: An STR polymorphism at the CYBB locus
Hum. Mol. Genet. 1993 2: 1755; doi:10.1093/hmg/2.10.1755 [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 1757-1760; doi:10.1093/hmg/2.10.1757 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 1761-1762; doi:10.1093/hmg/2.10.1761 [PDF] [Request Permissions]

Corrigendum:

L. Pereira, M. D'Alessio, F. Ramirez, J.R. Lynch, B. Sykes, T. Pangilinan, and J. Bonadio: Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
Hum. Mol. Genet. 1993 2: 1762; doi:10.1093/hmg/2.10.1762 [Abstract] [PDF] [Request Permissions]

Human Molecular Genetics