Hum. Mol. Genet. -- Table of Contents (2 [3] )

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Contents: Volume 2, Number 3   March 1993   [Index by Author]

       COMMENTARY

       ORIGINAL ARTICLES

       SHORT REPORT

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

       ERRATUM

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COMMENTARY:

David J. Porteous and Julia R. Dorin: Gene therapy for cystic fibrosis—Where and When?
Hum. Mol. Genet. 1993 2: 211-212; doi:10.1093/hmg/2.3.211 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Ann E.O. Trezise, Julie A. Chambers, Catherine J. Wardle, Stephen Gould, and Ann Harris: Expression of the cystic fibrosis gene in human foetal tissues
Hum. Mol. Genet. 1993 2: 213-218; doi:10.1093/hmg/2.3.213 [Abstract] [PDF] [Request Permissions]

Eduardo F. Tizzano, David Chitayat, and Manuel Buchwald: Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues
Hum. Mol. Genet. 1993 2: 219-224; doi:10.1093/hmg/2.3.219 [Abstract] [PDF] [Request Permissions]

Theresa V. Strong, Daniel J. Wilkinson, Monique K. Monsoura, Daniel C. Devor, Karlin Henze, Yiping Yang, James M. Wilson, Jonathan A. Cohn, David C. Dawson, Raymond A. Frizzell, and Francis S. Collins: Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance
Hum. Mol. Genet. 1993 2: 225-230; doi:10.1093/hmg/2.3.225 [Abstract] [PDF] [Request Permissions]

Katrin Will, Manfred Stuhrmann, Michael Dean, and Jörg Schmidtke: Alternative splicing in the first nucleotide binding fold of CFTR
Hum. Mol. Genet. 1993 2: 231-235; doi:10.1093/hmg/2.3.231 [Abstract] [PDF] [Request Permissions]

Jeffrey Yon, Tania Jones, Ken Garson, Denise Sheer, and Mike Fried: The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1
Hum. Mol. Genet. 1993 2: 237-240; doi:10.1093/hmg/2.3.237 [Abstract] [PDF] [Request Permissions]

Emily Gardner, Laura Papi, Douglas F. Easton, Tim Cummings, Charles E. Jackson, Michael Kaplan, Donald R. Love, Sara E. Mole, Julie K. Moore, Lois M. Mulligan, Robert A. Norum, Margaret A. Ponder, Seymour Reichlin, Glenn Stall, Håkan Telenius, Margareta Telenius-Berg, Alan Tunnacliffe, and Bruce A.J. Ponder: Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
Hum. Mol. Genet. 1993 2: 241-246; doi:10.1093/hmg/2.3.241 [Abstract] [PDF] [Request Permissions]

Sara E. Mole, Lois M. Mulligan, Catherine S. Healey, Bruce A.J. Ponder, and Alan Tunnacliffe: Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2
Hum. Mol. Genet. 1993 2: 247-252; doi:10.1093/hmg/2.3.247 [Abstract] [PDF] [Request Permissions]

Kevin Morgan, Graeme Scobie, and Noor A. Kalsheker: Point mutation in a 3' flanking sequence of the alpha-1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence
Hum. Mol. Genet. 1993 2: 253-257; doi:10.1093/hmg/2.3.253 [Abstract] [PDF] [Request Permissions]

Melissa H. Little, Kathleen A. Williamson, Marcel Mannens, Anna Kelsey, Christine Gosden, Nicholas D. Hastie, and Veronica van Heyningen: Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion
Hum. Mol. Genet. 1993 2: 259-264; doi:10.1093/hmg/2.3.259 [Abstract] [PDF] [Request Permissions]

Laurence Colleaux, Claire Rougeulle, Philip Avner, and Bernard Dujon: Rapid physical mapping of YAC inserts by random integration of I-Sce I sites
Hum. Mol. Genet. 1993 2: 265-271; doi:10.1093/hmg/2.3.265 [Abstract] [PDF] [Request Permissions]

Daniel S. Greenspan: The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene
Hum. Mol. Genet. 1993 2: 273-278; doi:10.1093/hmg/2.3.273 [Abstract] [PDF] [Request Permissions]

P.A. Crossey, E.R. Maher, M.H. Jones, F.M. Richards, F. Latif, M.E. Phipps, M. Lush, K. Foster, K. Tory, J.S. Green, B. Oostra, J.R.W. Yates, W.M. Linehan, N.A. Affara, M. Lerman, B. Zbar, Y. Nakamura, and M.A. Ferguson-Smith: Genetic linkage between Von Hippel—Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus
Hum. Mol. Genet. 1993 2: 279-282; doi:10.1093/hmg/2.3.279 [Abstract] [PDF] [Request Permissions]

Akira Horii, Shuichi Nakatsuru, Shigetoshi Ichii, Hiroki Nagase, and Yusuke Nakamura: Multiple forms of the APC gene transcripts and their tissue-specific expression
Hum. Mol. Genet. 1993 2: 283-287; doi:10.1093/hmg/2.3.283 [Abstract] [PDF] [Request Permissions]

David J. Koorey, G.Alexander Bishop, and Geoffrey W. McCaughan: Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms
Hum. Mol. Genet. 1993 2: 289-291; doi:10.1093/hmg/2.3.289 [Abstract] [PDF] [Request Permissions]

Bobbie Gostout, Erica Vielhaber, Rhett P. Ketterling, Hong-Sup Yoon, Cynthia D.K. Bottema, Carol K. Kasper, Marion A. Koerper, and Steve S. Sommer: Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians
Hum. Mol. Genet. 1993 2: 293-298; doi:10.1093/hmg/2.3.293 [Abstract] [PDF] [Request Permissions]

Mani S. Mahadevan, Chris Amemiya, Gert Jansen, Luc Sabourin, Stephen Baird, Catherine E. Neville, Nicole Wormskamp, Bart Segers, Mark Batzer, Jane Lamerdin, Peter de Jong, Bé Wieringa, and Robert G. Korneluk: Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
Hum. Mol. Genet. 1993 2: 299-304; doi:10.1093/hmg/2.3.299 [Abstract] [PDF] [Request Permissions]

R.G. Snell, L.A. Doucette-Stamm, K.M. Gillespie, S.A.M. Taylor, L. Riba, G.P. Bates, M.R. Altherr, M.E. MacDonald, J.F. Gusella, J.J. Wasmuth, H. Lehrach, D.E. Housman, P.S. Harper, and D.J. Shaw: The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library
Hum. Mol. Genet. 1993 2: 305-309; doi:10.1093/hmg/2.3.305 [Abstract] [PDF] [Request Permissions]

SHORT REPORT:

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Arthur H.M. Burghes, Mary S. Sedra, Lorraine M. Western, Claire Bartello, and Jerry R. Mendell: Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation
Hum. Mol. Genet. 1993 2: 311-313; doi:10.1093/hmg/2.3.311 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Damjan Glavac, Metka Ravnik-Glavac, and Michael Dean: Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population
Hum. Mol. Genet. 1993 2: 315-316; doi:10.1093/hmg/2.3.315 [PDF] [Request Permissions]

Jeremy P. Cheadle, Layla N. AI-Jader, and Alison L. Meredith: Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Hum. Mol. Genet. 1993 2: 317-319; doi:10.1093/hmg/2.3.317 [PDF] [Request Permissions]

D. Carter, D. Campion, Th. d'Amato, M. Jay, A. Brice, M. Bellis, J. Mallet, and Y. Agid: No mutation in codon 713 of the amyloid precursor gene in schizophrenic patients
Hum. Mol. Genet. 1993 2: 321; doi:10.1093/hmg/2.3.321 [PDF] [Request Permissions]

Dana Dvoráková and Lenka Fajkusová: Direct analysis of R408W mutation in phenylalanine hydroxylase gene by allele-specific PCR amplification
Hum. Mol. Genet. 1993 2: 323; doi:10.1093/hmg/2.3.323 [PDF] [Request Permissions]

Juergen K.V.Reichardt, Giuseppe Novelli, and Bruno Dallapiccola: Molecular characterization of the H319Q galactosemia mutation
Hum. Mol. Genet. 1993 2: 325-326; doi:10.1093/hmg/2.3.325 [PDF] [Request Permissions]

J.I.H. Walker, D.M. Layton, A.J. Bellingham, M.J. Morgan, and P. Faik: DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency
Hum. Mol. Genet. 1993 2: 327-329; doi:10.1093/hmg/2.3.327 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Gary A. Silverman, Richard Jenkins, Gail A.P. Bruns, and Michelle M. LeBeau: Reassignment of pEFD70.3 (D18S23) to human chromosome band 21q22.2 (D21S412) by physical mapping
Hum. Mol. Genet. 1993 2: 331; doi:10.1093/hmg/2.3.331 [PDF] [Request Permissions]

Kristen M. Lia, Gail A.P. Bruns, Michelle M. LeBeau, and Gary A. Silverman: pMCT108.2 is a chimaeric clone which physically maps to human chromosome bands 9q33 (D9S203) and 18q21.1 (D18S24)
Hum. Mol. Genet. 1993 2: 332; doi:10.1093/hmg/2.3.332 [PDF] [Request Permissions]

Gert Jansen, Marga Coerwinkel-Driessen, Willy Nillesen, Han Brunner, and Bé Wieringa: Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene
Hum. Mol. Genet. 1993 2: 333; doi:10.1093/hmg/2.3.333 [PDF] [Request Permissions]

E. Verderio, P. Cavadini, M. Pandolfo, S. DiDonato, and F. Taroni: Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene
Hum. Mol. Genet. 1993 2: 334; doi:10.1093/hmg/2.3.334 [PDF] [Request Permissions]

William Byerley, Mark Hoff, John Holik, Marc G. Caron, and Bruno Giros: VNTR polymorphism for the human dopamine transporter gene (DAT1)
Hum. Mol. Genet. 1993 2: 335; doi:10.1093/hmg/2.3.335 [PDF] [Request Permissions]

Laura Schmidt, Hua Li, Fuh-Mei C. Duh, Ming-Hui Wei, Michael I. Lerman, Berton Zbar, and Kalman Tory: A centromeric microsatellite probe on chromosome 3: LIB 9-95ca (D3S1338)
Hum. Mol. Genet. 1993 2: 335; doi:10.1093/hmg/2.3.335-a [PDF] [Request Permissions]

R. Thomas Taggart, Christopher J. Krebs, Chadwick M. Mullins, Joseph H. Horton, William J. Paradee, and Rodney Slusher: D11S970 CATT polymorphism (RC29) located near the MEN1 locus at 11q13
Hum. Mol. Genet. 1993 2: 336; doi:10.1093/hmg/2.3.336 [PDF] [Request Permissions]

Claude Marineau, Chantal Baron, Olivier Delattre, Jessica Zucman, Gilles Thomas, and Guy A. Rouleau: Dinucleotide repeat polymorphism at the D22S268 locus
Hum. Mol. Genet. 1993 2: 336; doi:10.1093/hmg/2.3.336-a [PDF] [Request Permissions]

Michael K. Showe, Donna Williams, and Louise C. Showe: An Mbol RFLP in the human erythrocyte surface protein band 3-like 1 gene (EPB3L1) on chromosome 7q35–7q36
Hum. Mol. Genet. 1993 2: 337; doi:10.1093/hmg/2.3.337 [PDF] [Request Permissions]

Hee-Kyung Hong, Roberto Giorda, Ling Mei Yu, Massimo Trucco, and Aravinda Chakravarti: Microsatellite repeat polymorphism at the D13S197 locus
Hum. Mol. Genet. 1993 2: 337; doi:10.1093/hmg/2.3.337-a [PDF] [Request Permissions]

James T. Warren, Jr, Michael L. Peacock, Luis C. Rodriguez, and John K. Fink: An Mspl polymorphism in the hyman serotonin receptor gene (HTR2): detection by DGGE and RFLP analysis
Hum. Mol. Genet. 1993 2: 338; doi:10.1093/hmg/2.3.338 [PDF] [Request Permissions]

H. Cardoso, M.A. Mori, B. Crispino, A. Mimbacas, and R. Uriarte: A new polymorphic probe on chromosome 22q (XD6) (D22S313)
Hum. Mol. Genet. 1993 2: 338; doi:10.1093/hmg/2.3.338-a [PDF] [Request Permissions]

A. Henke and G. Rappold: PA2.1 detects a Taql polymorphism in the pseudoautosomal region
Hum. Mol. Genet. 1993 2: 339; doi:10.1093/hmg/2.3.339 [PDF] [Request Permissions]

A. Klink, M. Wapenaar, G.J.B. van Ommen, and G. Rappold: AK1 detects a VNTR locus in the pseudoautosomal region
Hum. Mol. Genet. 1993 2: 339; doi:10.1093/hmg/2.3.339-a [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 341; doi:10.1093/hmg/2.3.341 [PDF] [Request Permissions]

ERRATUM:

R.J. Lipscombe, M. Sumiya, A.V.S. Hill, Y.L. Lau, R.J. Levinsky, J.A. Summerfield, and M.W. Turner: High frequencies in African and non-African populations of independent mutation in the mannose binding protein gene
Hum. Mol. Genet. 1993 2: 342; doi:10.1093/hmg/2.3.342 [Abstract] [PDF] [Request Permissions]