Human Molecular Genetics

ORIGINAL ARTICLES:

Markus Stoffel, Kun-san Xiang, Rafael Espinosa, III, Nancy J. Cox, Michelle M. Le Beau, and Graeme I. Bell

cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young
Hum. Mol. Genet. 1993 2: 1-4; doi:10.1093/hmg/2.1.1 [Abstract] [PDF] [Request Permissions]  

Rachel H. Flomen, Elizabeth P. Green, Peter M. Green, David R. Bentley, and Francesco Giannelli

Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene
Hum. Mol. Genet. 1993 2: 5-10; doi:10.1093/hmg/2.1.5 [Abstract] [PDF] [Request Permissions]  

J.A. Naylor, P.M. Green, C.R. Rizza, and F. Giannelli

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
Hum. Mol. Genet. 1993 2: 11-17; doi:10.1093/hmg/2.1.11 [Abstract] [PDF] [Request Permissions]  

Akiko Iwaki, Tamaki Muramoto, Toru Iwaki, Hiroyasu Furumi, Maria L. Dario-deLeon, Jun Tateishi, and Yasuyuki Fukumaki

A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family
Hum. Mol. Genet. 1993 2: 19-22; doi:10.1093/hmg/2.1.19 [Abstract] [PDF] [Request Permissions]  

Jo Poulton, Mary E. Deadman, Lawrence Bindoff, Karl Morten, John Land, and Garry Brown

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
Hum. Mol. Genet. 1993 2: 23-30; doi:10.1093/hmg/2.1.23 [Abstract] [PDF] [Request Permissions]  

V. Abadie, J. Jaruzelska, S. Lyonnet, P. Millasseau, M. Berthelon, F. Rey, A. Munnich, and J. Rey

IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria
Hum. Mol. Genet. 1993 2: 31-34; doi:10.1093/hmg/2.1.31 [Abstract] [PDF] [Request Permissions]  

Rachel A. Gibson, Manuel Buchwald, Roland G. Roberts, and Christopher G. Mathew

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
Hum. Mol. Genet. 1993 2: 35-38; doi:10.1093/hmg/2.1.35 [Abstract] [PDF] [Request Permissions]  

M. Vainzof, R.I. Takata, M.R. Passos-Bueno, R.C.M. Pavanello, and M. Zatz

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
Hum. Mol. Genet. 1993 2: 39-42; doi:10.1093/hmg/2.1.39 [Abstract] [PDF] [Request Permissions]  

Elaine S. Mansfield

Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
Hum. Mol. Genet. 1993 2: 43-50; doi:10.1093/hmg/2.1.43 [Abstract] [PDF] [Request Permissions]  

M.P. Audrézet, B. Mercier, H. Guillermit, I. Quéré, C. Verlingue, G. Rault, and C. Férec

Identification of 12 novel mutations in the CFTR gene
Hum. Mol. Genet. 1993 2: 51-54; doi:10.1093/hmg/2.1.51 [Abstract] [PDF] [Request Permissions]  

Abdel El Kahloun, Bruno Chauvel, Valérie Mauvieux, Ian Dorval, Anne-Marie Jouanolle, Isabelle Gicquel, Jean-Yves Le Gall, and Véronique David

Localization of seven new genes around the HLA-A locus
Hum. Mol. Genet. 1993 2: 55-60; doi:10.1093/hmg/2.1.55 [Abstract] [PDF] [Request Permissions]  

Said Akli, Jean-Claude Chomel, Jean-Marc Lacorte, Lucien Bachner, Axel, and Livia Poenaru

Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients
Hum. Mol. Genet. 1993 2: 61-67; doi:10.1093/hmg/2.1.61 [Abstract] [PDF] [Request Permissions]  

Clive R. Pullinger, Bernice R. Zysow, Lori K. Hennessy, Philip H. Frost, Mary J. Malloy, and John P. Kane

Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia
Hum. Mol. Genet. 1993 2: 69-74; doi:10.1093/hmg/2.1.69 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Roland G. Roberts, Maria Rita Passos-Bueno, Martin Bobrow, Mariz Vainzof, and Mayana Zatz

Point mutation in a Becker muscular dystrophy patient
Hum. Mol. Genet. 1993 2: 75-77; doi:10.1093/hmg/2.1.75 [PDF] [Request Permissions]  

V. Nunes, M. Chillón, T. Dörk, B. Tümmler, T. Casals, and X. Estivill

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype
Hum. Mol. Genet. 1993 2: 79-80; doi:10.1093/hmg/2.1.79 [PDF] [Request Permissions]  

Khedoudja Nafa, Abderrezak Reghis, Naima Osmani, Lamia Baghli, Mohamed Benabadji, Jean-Claude Kaplan, Thomas J. Vulliamy, and Lucio Luzzatto

G6PD Aures: a new mutation (48 lle Thr) causing mild G6PD deficiency is associated with favism
Hum. Mol. Genet. 1993 2: 81-82; doi:10.1093/hmg/2.1.81 [PDF] [Request Permissions]  

G.B. Leoni, M.C. Rosatelli, G. Cossu, M.C. Pischedda, S. De Virgiliis, and A. Cao

A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient
Hum. Mol. Genet. 1993 2: 83-84; doi:10.1093/hmg/2.1.83 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

Jessie Gu, Lori Sadler, Stephen Daiger, Dan Wells, and Michael Wagner

Dinucleotide repeat polymorphism at the CRH gene
Hum. Mol. Genet. 1993 2: 85; doi:10.1093/hmg/2.1.85 [PDF] [Request Permissions]  

Hee-Kyung Hong, Roberto Giorda, Massimo Trucco, and Aravinda Chakravarti

Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci
Hum. Mol. Genet. 1993 2: 86; doi:10.1093/hmg/2.1.86 [PDF] [Request Permissions]  

Hans-Christian Hennies and André Reis

Three dinucleotide microsatellite polymorphisms on human chromosome 13
Hum. Mol. Genet. 1993 2: 87; doi:10.1093/hmg/2.1.87 [PDF] [Request Permissions]  

Thomas D. Barber, Robert Morell, Daniel H. Johnson, James H. Asher, Jr, and Thomas B. Friedman

A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1
Hum. Mol. Genet. 1993 2: 88; doi:10.1093/hmg/2.1.88 [PDF] [Request Permissions]  

D. Browne, M. Gen, G.A. Evans, S.P. Clark, and M. Litt

Tetranucleotide repeat polymorphism at the D11S488 locus
Hum. Mol. Genet. 1993 2: 89; doi:10.1093/hmg/2.1.89 [PDF] [Request Permissions]  

Laura Schmidt, Hua Li, Ming-Hui Wei, Michael I. Lerman, Berton Zbar, and Kalman Tory

A polymorphic dinucleotide repeat probe on chromosome 3p: LIB 44-36ca (D3S769)
Hum. Mol. Genet. 1993 2: 89; doi:10.1093/hmg/2.1.89-a [PDF] [Request Permissions]  

J.-C. Pages, C. Drieu, H. Blanché, J. Beckmann, and H.M. Cann

A short tandem repeat polymorphism at the endothelin 1 (EDN1) locus
Hum. Mol. Genet. 1993 2: 90; doi:10.1093/hmg/2.1.90 [PDF] [Request Permissions]  

S.R. Szubryt, W.L. Neuman, and C.A. Westbrook

Dinucleotide repeat polymorphism at the D5S178 locus
Hum. Mol. Genet. 1993 2: 90; doi:10.1093/hmg/2.1.90-a [PDF] [Request Permissions]  

F. Latif, K. Tory, W. Modi, L. Geil, S. LaForgia, K. Huebner, B. Zbar, and M.I. Lerman

A Mspl polymorphism and linkage mapping of the human proteintyrosine phosphatase G (PTPRG) gene
Hum. Mol. Genet. 1993 2: 91; doi:10.1093/hmg/2.1.91 [PDF] [Request Permissions]  

Jeanette Erdmann and Markus M. Nöthen

Dinucleotide repeat polymorphism at the D18S99 locus
Hum. Mol. Genet. 1993 2: 91; doi:10.1093/hmg/2.1.91-a [PDF] [Request Permissions]  

Katherine J. Ashbourne, Barbara C. Byth, Joost C.M. Meijers, and Diane W. Cox

Polymorphism of the protein C inhibitor (PCI) gene on chromosome 14
Hum. Mol. Genet. 1993 2: 92; doi:10.1093/hmg/2.1.92 [PDF] [Request Permissions]  

P. Roustan, A.R.J. Curtis, S. Kamakari, D. Thiselton, S. Lindsay, and S.S. Bhattacharya

Dinucleotide repeat polymorphism at the DXS573 locus
Hum. Mol. Genet. 1993 2: 92; doi:10.1093/hmg/2.1.92-a [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1993 2: 93; doi:10.1093/hmg/2.1.93 [PDF] [Request Permissions]  

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