Human Molecular Genetics

COMMENTARY:

Huntington F. Willard

Cloning of the X-linked glycerol kinase gene
Hum. Mol. Genet. 1993 2: 95-96; doi:10.1093/hmg/2.2.95 [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Carole A. Sargent, NabeelA. Affara, Elizabeth Bentley, Adele Pelmear, David M.D. Bailey, Phillip Davey, David Dow, Margaret Leversha, Helen Aplin, Guy T.N. Besley, and Malcolm A. Ferguson-Smith

Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue
Hum. Mol. Genet. 1993 2: 97-106; doi:10.1093/hmg/2.2.97 [Abstract] [PDF] [Request Permissions]  

Ann P. Walker, Françoise Muscatelli, and Anthony P. Monaco

Isolation of the human Xp21 glycerol kinase gene by positional cloning
Hum. Mol. Genet. 1993 2: 107-114; doi:10.1093/hmg/2.2.107 [Abstract] [PDF] [Request Permissions]  

Kathryn L. Evans, Judith Fantes, Craig Simpson, Benoit Arveiler, Walter Muir, Judith Fletcher, Veronica van Heyningen, Karen P. Steel, Kathryn A. Brown, Stephen D.M. Brown, David St. Clair, and David J. Porteous

Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I
Hum. Mol. Genet. 1993 2: 115-118; doi:10.1093/hmg/2.2.115 [Abstract] [PDF] [Request Permissions]  

Ulrich Müller, Matthew L. Warman, John B. Mulliken, and James L. Weber

Assignment of a gene locus involved in craniosynostosis to chromosome 5qter
Hum. Mol. Genet. 1993 2: 119-122; doi:10.1093/hmg/2.2.119 [Abstract] [PDF] [Request Permissions]  

Hanna Gavish, Claudia C.dos Santos, and Manuel Buchwald

A Leu₅₅₄-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein
Hum. Mol. Genet. 1993 2: 123-126; doi:10.1093/hmg/2.2.123 [Abstract] [PDF] [Request Permissions]  

Huafang Yi, Susan J. Donohue, David C. Klein, and O.Wesley McBride

Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders
Hum. Mol. Genet. 1993 2: 127-131; doi:10.1093/hmg/2.2.127 [Abstract] [PDF] [Request Permissions]  

Yasuyki Hayashi, Edith Heard, and Mike Fried

A large inverted duplicated DNA region associated with an amplified oncogene is stably maintained in a YAC
Hum. Mol. Genet. 1993 2: 133-138; doi:10.1093/hmg/2.2.133 [Abstract] [PDF] [Request Permissions]  

Ruth Lovering, Helen R. Middleton-Price, Marie-Anne J. O'Reilly, Sally A. Genet, Mohammed Parkar, Angela K. Sweatman, Linda D. Bradley, Lesley A. Alterman, Sue Malcolm, Gareth Morgan, Roland J. Levinsky, and Christine Kinnon

Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22
Hum. Mol. Genet. 1993 2: 139-141; doi:10.1093/hmg/2.2.139 [Abstract] [PDF] [Request Permissions]  

Apiwat Mutirangura, Frank Greenberg, Merlin G. Butler, Sue Malcolm, Robert D. Nicholls, Aravinda Chakravarti, and David H. Ledbetter

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy
Hum. Mol. Genet. 1993 2: 143-151; doi:10.1093/hmg/2.2.143 [Abstract] [PDF] [Request Permissions]  

Anthony P. Shuber, Joel Skoletsky, Robert Stern, and Barbara L. Handelin

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis
Hum. Mol. Genet. 1993 2: 153-158; doi:10.1093/hmg/2.2.153 [Abstract] [PDF] [Request Permissions]  

Brenda Richards, Joel Skoletsky, Anthony P. Shuber, Rosemary Balfour, Robert C. Stern, Henry L. Dorkin, Richard B. Parad, David Witt, and Katherine W. Klinger

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
Hum. Mol. Genet. 1993 2: 159-163; doi:10.1093/hmg/2.2.159 [Abstract] [PDF] [Request Permissions]  

Janet Harwood, Akira Tachibana, Rosemary Davis, Nitai P. Bhattacharyya, and Mark Meuth

High rate of multilocus deletion in a human tumor cell line
Hum. Mol. Genet. 1993 2: 165-171; doi:10.1093/hmg/2.2.165 [Abstract] [PDF] [Request Permissions]  

Elgin G.R. Lichtenauer-Kaligis, letje van der Velde-van Dijke, Hans den Dulk, Pieter van de Putte, Micheline Giphart-Gassler, and Judith G. Tasseron-de

Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis
Hum. Mol. Genet. 1993 2: 173-182; doi:10.1093/hmg/2.2.173 [Abstract] [PDF] [Request Permissions]  

Joan H.M. Knoll, Daniel Sinnett, Joseph Wagstaff, Karen Glatt, Andrea Schantz Wilcox, Paul M. Whiting, Peter Wingrove, James M. Sikela, and Marc Lalande

FISH ordering of reference markers and of the gene for the 5 subunit of the -aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regions
Hum. Mol. Genet. 1993 2: 183-189; doi:10.1093/hmg/2.2.183 [Abstract] [PDF] [Request Permissions]  

Stephanie Halford, Elizabeth Lindsay, Manimekalai Nayudu, Alisoun H. Carey, Antonio Baldini, and Peter J. Scambler

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11
Hum. Mol. Genet. 1993 2: 191-196; doi:10.1093/hmg/2.2.191 [Abstract] [PDF] [Request Permissions]  

SHORT REPORTS:

M.C. Hirst, A. Barnicoat, G. Flynn, Q. Wang, M. Daker, V.J. Buckle, K.E. Davies, and M. Bobrow

The identification of a third fragile site, FRAXF, in Xq27 — q28 distal to both FRAXA and FRAXE
Hum. Mol. Genet. 1993 2: 197-200; doi:10.1093/hmg/2.2.197 [Abstract] [PDF] [Request Permissions]  

M.R. Passos-Bueno, E. Bakker, S.K.N. Marie, R.C. Pavanello, M. Vainzof, A.A. Carvalho, D. Cohen, J. Beckmann, and M. Zatz

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families
Hum. Mol. Genet. 1993 2: 201-202; doi:10.1093/hmg/2.2.201 [PDF] [Request Permissions]  

MUTATION REPORTS:

O. Ogawa, M.R. Eccles, K. Yun, R.F. Mueller, M.D.D. Holdaway, and A.E. Reeve

A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys— Drash syndrome
Hum. Mol. Genet. 1993 2: 203-204; doi:10.1093/hmg/2.2.203 [PDF] [Request Permissions]  

Orna Levran, Robert J. Desnick, and Edward H. Schuchman

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann - Pick disease
Hum. Mol. Genet. 1993 2: 205-206; doi:10.1093/hmg/2.2.205 [PDF] [Request Permissions]  

G. Restagno, M. Maghtheh, S. Bhattacharya, M. Ferrone, S. Garnerone, R. Samuelly, and A. Carbonara

A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 1993 2: 207-208; doi:10.1093/hmg/2.2.207 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1993 2: 209; doi:10.1093/hmg/2.2.209 [PDF] [Request Permissions]  

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