Hum. Mol. Genet. -- Table of Contents (2 [9] )

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Contents: Volume 2, Number 9   September 1993   [Index by Author]

       ORIGINAL ARTICLES

       SHORT COMMUNICATIONS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS

       Author index

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ORIGINAL ARTICLES:

Roland Heine, Ursula Plka, and Frank Lehmann-Horn: A novel SCN4A mutation causing myotonia aggravated by cold and potassium
Hum. Mol. Genet. 1993 2: 1349-1353; doi:10.1093/hmg/2.9.1349 [Abstract] [PDF] [Request Permissions]

Osamu Takamlya, Geoffrey Kemball-Cook, David M.A. Martin, David N. Cooper, Arthur von Felten, Esther Melll, Ian Hann, Dennls R. Prangnell, Hllary Lumley, Edward G.D. Tuddenham, and John H. McVey: Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII
Hum. Mol. Genet. 1993 2: 1355-1359; doi:10.1093/hmg/2.9.1355 [Abstract] [PDF] [Request Permissions]

Ya-Gang Xle, Fei-Yu Han, Myrlam Peyrard, Martin H. Ruttledge, Ingegerd Fransson, Pleter DeJong, John Collins, Ian Dunham, Magnus Nordenakjöld, and Jan P.Dumanski: Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12
Hum. Mol. Genet. 1993 2: 1361-1368; doi:10.1093/hmg/2.9.1361 [Abstract] [PDF] [Request Permissions]

Kiyoshi Hayasaka, Goro Takada, and Victor V.Ionasescu: Mutation of the myelin Po gene in Charcot — Marie — Tooth neuropathy type 1B
Hum. Mol. Genet. 1993 2: 1369-1372; doi:10.1093/hmg/2.9.1369 [Abstract] [PDF] [Request Permissions]

Mala Adams, Andy Urquhart, Colln Kimpton, and Peter Gill: The human D11S554 locus: four distinct families of repeat pattern alleles at one locus
Hum. Mol. Genet. 1993 2: 1373-1376; doi:10.1093/hmg/2.9.1373 [Abstract] [PDF] [Request Permissions]

Christopher C. Glenn, Robert D. Nicholls, Wendy P. Robinson, Shinjl Saitoh, Norlo Nllkawa, Albert Schlnzel, Bernhard Horsthemke, and Daniel J. Driscoll: Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients
Hum. Mol. Genet. 1993 2: 1377-1382; doi:10.1093/hmg/2.9.1377 [Abstract] [PDF] [Request Permissions]

Caria Jodice, Marina Frontali, Francesca Persichetti, Andrea Novelletto, Massimo Pandolfo, Maria Spadaro, Paola Glunti, Gluseppe Schinala, Patrizia Lulli, Patrizia Malaspina, Rosaria Plasmati, Rosaria Tola, Antonella Antonelli, Stefano Dl Donato, Cristoforo Morocutti, Jean Welssenbach, Howard M. Cann, and Luclano Terrenato: The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci
Hum. Mol. Genet. 1993 2: 1383-1387; doi:10.1093/hmg/2.9.1383 [Abstract] [PDF] [Request Permissions]

J. Gecz, L. Vlllard, A.M. Lossl, P. Mlllasseau, M. Djaball, and M. Fontes: Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts
Hum. Mol. Genet. 1993 2: 1389-1396; doi:10.1093/hmg/2.9.1389 [Abstract] [PDF] [Request Permissions]

M. Anvret, G. Ahlberg, U. Grandell, B. Hedberg, K. Johnson, and L. Edstrom: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
Hum. Mol. Genet. 1993 2: 1397-1400; doi:10.1093/hmg/2.9.1397 [Abstract] [PDF] [Request Permissions]

Gordon R. Thomas, Eve A. Roberts, Theodore O. Rosales, Stanley P. Moroz, Marie A. Lambert, Lawrence T.K. Wong, and Dlane W. Cox: Allelic association and linkage studies in Wilson disease
Hum. Mol. Genet. 1993 2: 1401-1405; doi:10.1093/hmg/2.9.1401 [Abstract] [PDF] [Request Permissions]

Alban J. Llnnenbach, Lee B. Pressler, Beth A.Seng, Barry S. Klmmel, John E.Tomaszewskl, and S.Bruce Malkowlcz: Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay
Hum. Mol. Genet. 1993 2: 1407-1411; doi:10.1093/hmg/2.9.1407 [Abstract] [PDF] [Request Permissions]

Joris Winderickx, Laurie Battlsti, Yuko Hlbiya, Amo G.Motulsky, and Samir S. Deeb: Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3
Hum. Mol. Genet. 1993 2: 1413-1421; doi:10.1093/hmg/2.9.1413 [Abstract] [PDF] [Request Permissions]

Kemal Azlbi, Luclen Bachner, Jacques S.Beckmann, Kllchlro Matsumura, Elhadl Hamouda, Mallka Chaouch, Athmane Chaouch, Rachlda Alt-Ouarab, Alaln Vlgnal, Jean Welssenbach, Marie-Claude Vinet, France Leturcq, Huguette Collln, Fernando M.S.Tomé, Abderrezak Reghis, Michel Fardeau, Kevin P.Campbell, and Jean-Claude Kaplan: Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
Hum. Mol. Genet. 1993 2: 1423-1428; doi:10.1093/hmg/2.9.1423 [PDF] [Request Permissions]

R.I. Richards, K. Holman, S. Yu, and G.R. Sutherland: Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
Hum. Mol. Genet. 1993 2: 1429-1435; doi:10.1093/hmg/2.9.1429 [Abstract] [PDF] [Request Permissions]

Paola Carrera, Renzo Cordera, Maurizio Ferrarl, Laura Cremonesl, Roberto Taramelli, Gabriella Andraghettl, Caria Carduccl, Nlcoletta Dozio, Guido Pozza, Simeon I. Taylor, Plero Mlcossl, and Fabrizlo Barbettl: Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance
Hum. Mol. Genet. 1993 2: 1437-1441; doi:10.1093/hmg/2.9.1437 [Abstract] [PDF] [Request Permissions]

Tohru Yorlfujl, Raymond W.Wilson, and Arthur L. Beaudet: Retroviral mediated expression of CD18 in normal and deficient human bone marrow progenitor cells
Hum. Mol. Genet. 1993 2: 1443-1448; doi:10.1093/hmg/2.9.1443 [Abstract] [PDF] [Request Permissions]

Dan S. Prestrldge and Christian Burks: The density of transcriptional elements in promoter and non-promoter sequences
Hum. Mol. Genet. 1993 2: 1449-1453; doi:10.1093/hmg/2.9.1449 [Abstract] [PDF] [Request Permissions]

Gabriella Pepe and Guglielmina Chlmlenti: Correct usage of a mutated G⁺¹ splice site and transcript quantitation in a lipoprotein lipase-deficient patient
Hum. Mol. Genet. 1993 2: 1455-1459; doi:10.1093/hmg/2.9.1455 [Abstract] [PDF] [Request Permissions]

SHORT COMMUNICATIONS:

Susan Kenwrick, Margaret Leversha, Lesley Rooke, Thomas Hasler, and Peter Sonderegger: Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome
Hum. Mol. Genet. 1993 2: 1461-1462; doi:10.1093/hmg/2.9.1461 [PDF] [Request Permissions]

Shulchl Nakatsuru, Akio Yanaglsawa, Yolchi Furukawa, Shigetoshl Ichll, Yo Kato, Yusuke Nakamura, and Akira Horil: Somatic mutations of the APC gene in precancerous lesion of the stomach
Hum. Mol. Genet. 1993 2: 1463-1465; doi:10.1093/hmg/2.9.1463 [Abstract] [PDF] [Request Permissions]

Christine Zühike, Olaf Rless, Kirsten Schröder, Ina Sledlaczck, Jörg T.Epplen, Wolfgang Engel, and Ulrike Thles: Expansion of the (CAG)_n repeat causing Huntington's disease in 352 patients of German origin
Hum. Mol. Genet. 1993 2: 1467-1469; doi:10.1093/hmg/2.9.1467 [PDF] [Request Permissions]

Hamish S.Scott, Paul V.Nelson, Tom Litjens, John J.Hopwood, and C.Phillip Morris: Multiple polymorphisms within the ${alpha}$ -L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype
Hum. Mol. Genet. 1993 2: 1471-1473; doi:10.1093/hmg/2.9.1471 [PDF] [Request Permissions]

Anne Nørremølle, Olaf Rless, Jörg T. Eppien, Kirsten Fenger, Lis Hasholt, and Sven Asger Sørensen: Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families
Hum. Mol. Genet. 1993 2: 1475-1476; doi:10.1093/hmg/2.9.1475 [Abstract] [PDF] [Request Permissions]

Géraldine Cancel, Catherine Khatl, Glovanni Stevanin, Jean-Christophe Pages, Yves Agid, Alexis Brice, and Howard M.Cann: Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1
Hum. Mol. Genet. 1993 2: 1477-1479; doi:10.1093/hmg/2.9.1477 [PDF] [Request Permissions]

Waltraut Friedl, Marion Mandl, and Marlies Sengteller: Single-step screening method for the most common mutations in familial adenomatous polyposis
Hum. Mol. Genet. 1993 2: 1481-1482; doi:10.1093/hmg/2.9.1481 [PDF] [Request Permissions]

Glovanni Stevanin, Hervé Chnelweiss, Eric Le Guern, Nicola Ravise, Alexandra Dürr, Christlane Penet, Yves Agid, and Alexis Brice: Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus
Hum. Mol. Genet. 1993 2: 1483-1485; doi:10.1093/hmg/2.9.1483 [PDF] [Request Permissions]

MUTATION REPORTS:

Robert Morell, Thomas B. Friedman, and James H. Asher, Jr: A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family
Hum. Mol. Genet. 1993 2: 1487-1488; doi:10.1093/hmg/2.9.1487 [PDF] [Request Permissions]

O. Pascal, P. Donnelly, C. Fouanon, O. Herbert, M.G.Le Roux, and J.P. Molsan: A new (old) deletion in the choroideremia gene
Hum. Mol. Genet. 1993 2: 1489; doi:10.1093/hmg/2.9.1489 [PDF] [Request Permissions]

Jun Zhong, Roland Spiegel, Eugen Boltshauser, and Werner Schmid: Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis
Hum. Mol. Genet. 1993 2: 1491-1492; doi:10.1093/hmg/2.9.1491 [PDF] [Request Permissions]

David L. Gossage, Colette J. Norby-Slycord, Michael S. Hershfied, and M.Loulse Markert: A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein
Hum. Mol. Genet. 1993 2: 1493-1494; doi:10.1093/hmg/2.9.1493 [PDF] [Request Permissions]

David J. Todd, Anne E. Hughes, Kevin T. Ennls, Alana J. Ward, Desmond Burrows, and Norman C.Nevin: Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria
Hum. Mol. Genet. 1993 2: 1495-1496; doi:10.1093/hmg/2.9.1495 [PDF] [Request Permissions]

Toshio Ohshlma, Masayukl Sasaki, Tetsuo Matsuzaka, and Norio Sakuragawa: A novel splicing abnormality in a Japanese patient with Gaucher's disease
Hum. Mol. Genet. 1993 2: 1497-1498; doi:10.1093/hmg/2.9.1497 [PDF] [Request Permissions]

R.A. Spritz, Stuart A. Holmes, Susan Z. Berg, James J. Nordlund, and Kazuyoshl Fukal: A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism
Hum. Mol. Genet. 1993 2: 1499-1500; doi:10.1093/hmg/2.9.1499 [PDF] [Request Permissions]

I.B. Runnebaum, D.G. Kieback, X.-W. Tong, and R. Krelenberg: p53 Gain-of-function mutation in codon 175 is a rare event in human breast cancer
Hum. Mol. Genet. 1993 2: 1501-1502; doi:10.1093/hmg/2.9.1501 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

M. Wehnert, O. Reiner, and C.T. Caskey: Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134
Hum. Mol. Genet. 1993 2: 1503; doi:10.1093/hmg/2.9.1503 [PDF] [Request Permissions]

Y. Shen, K. Holman, N.A. Doggett, D.F. Callen, G.R. Sutherland, and R.I. Richards: Five dinucleotide repeat polymorphisms on human chromosome 16q24.2 – q24.3
Hum. Mol. Genet. 1993 2: 1504; doi:10.1093/hmg/2.9.1504 [PDF] [Request Permissions]

Y. Shen, K. Holman, N.A. Doggett, D.F. Callen, G.R. Sutherland, and R.I. Richards: Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1
Hum. Mol. Genet. 1993 2: 1505; doi:10.1093/hmg/2.9.1505 [PDF] [Request Permissions]

Y. Shen, K. Holman, N.A. Doggett, D.F. Callen, G.R. Sutherland, and R.I. Richards: Three dinucleotide repeat polymorphisms on human chromosome 16p 13.11–p13.3
Hum. Mol. Genet. 1993 2: 1506; doi:10.1093/hmg/2.9.1506 [PDF] [Request Permissions]

C.A. Abbott, D. Koorey, and G.W. McCaughan: An EcoRI polymorphism within the dipeptidyl peptidase IV (DPPIV) gene
Hum. Mol. Genet. 1993 2: 1507; doi:10.1093/hmg/2.9.1507 [PDF] [Request Permissions]

A. Rulz-Linares: Dinucleotide repeat polymorphism in the inter-feron-gamma (IFNG) gene
Hum. Mol. Genet. 1993 2: 1508; doi:10.1093/hmg/2.9.1508 [PDF] [Request Permissions]

R.Cutier Allen and John W. Belmont: Trinucleotide repeat polymorphism at DXS101
Hum. Mol. Genet. 1993 2: 1508; doi:10.1093/hmg/2.9.1508-a [PDF] [Request Permissions]

Bärbel Dittrich, Stephanie Groß, Karin Buiting, and Bernhard Horsthemke: An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13
Hum. Mol. Genet. 1993 2: 1509; doi:10.1093/hmg/2.9.1509 [PDF] [Request Permissions]

Rachel A. Gibson, Anna Savola, Manuel Buchwald, and Christopher G.Mathew: EcoRI RFLP in the Fanconi anaemia complementation group C gene (FACC)
Hum. Mol. Genet. 1993 2: 1509; doi:10.1093/hmg/2.9.1509-a [PDF] [Request Permissions]

Sue H. Rider and Anthony P.Monaco: Primers for the dinucleotide repeat at the DXS453 locus also recognizes the DXS983 locus
Hum. Mol. Genet. 1993 2: 1510; doi:10.1093/hmg/2.9.1510 [PDF] [Request Permissions]

R.M. Hampson, G.C.M. Black, L.S. Leung, S.E. Jones, and M.J. Neal: An Mspl polymorphism at the D7S599E locus
Hum. Mol. Genet. 1993 2: 1510; doi:10.1093/hmg/2.9.1510-a [PDF] [Request Permissions]

Shawn W.Panzer, Holly A. Hammond, Lisa Stephens, Andrew Chal, and C.Thomas Caskey: Trinucleotide repeat polymorphism at D6S366
Hum. Mol. Genet. 1993 2: 1511; doi:10.1093/hmg/2.9.1511 [PDF] [Request Permissions]

M. Hattori, S. Kuwata, R. Fukuda, T. Sasaki, Y. Shibata, H. Kazamatsuri, and S. Nanko: Dinucleotide repeat polymorphism in the promoter region of neurotrophin-3 gene (NT3)
Hum. Mol. Genet. 1993 2: 1511; doi:10.1093/hmg/2.9.1511-a [PDF] [Request Permissions]

Robyn Rlley, Lesa Nelson, Jun Lu, Margaret Robertson, Linda Ballard, Judy Connolly, and Kenneth Ward: Tetranucleotide repeat polymorphism at the D8S320 locus
Hum. Mol. Genet. 1993 2: 1512; doi:10.1093/hmg/2.9.1512 [PDF] [Request Permissions]

T. Phromchotikul, D.L. Browne, M.E. Curran, M.T. Keating, and M. Litt: Dinucleotide repeat polymorphism at the KCNA5 locus
Hum. Mol. Genet. 1993 2: 1512; doi:10.1093/hmg/2.9.1512-a [PDF] [Request Permissions]

Beverly W.Baron, Christine Billstrand, Luisa Madronero, and Timothy W. McKeithan: HindIII polymorphism in the BCL6 gene
Hum. Mol. Genet. 1993 2: 1513; doi:10.1093/hmg/2.9.1513 [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 1515-1520; doi:10.1093/hmg/2.9.1515 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 1521; doi:10.1093/hmg/2.9.1521 [PDF] [Request Permissions]