Human Molecular Genetics

ARTICLES:

Ruth A. Heim, Lauren N.W. Kam-Morgan, Cameron G. Binnie, David D. Corns, Matthew C. Cayouette, Rosann A. Farber, Arthur S. Aylsworth, Lawrence M. Silverman, and Michael C. Luce

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
Hum. Mol. Genet. 1995 4: 975-981; doi:10.1093/hmg/4.6.975 [Abstract] [PDF] [Request Permissions]  

Jean-Pol Fippiat, Samuel C. Williams, Lan M. Tomlinson, Graham P. Cook, Dorra Cherif, Denis Le Paslier, John E. Collins, lan Dunham, Greg Winter, and Marie-Paule Lefranc

Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2
Hum. Mol. Genet. 1995 4: 983-991; doi:10.1093/hmg/4.6.983 [Abstract] [PDF] [Request Permissions]  

David P. Kelsell, Howard P. Stevens, Ravi Ratnavel, Stephen P. Bryant, D. Timothy Bishop, Irene M. Leigh, and Nigel K. Spurr

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
Hum. Mol. Genet. 1995 4: 1021-1025; doi:10.1093/hmg/4.6.1021 [Abstract] [PDF] [Request Permissions]  

Roy Wadey, Sara Daw, Catherine Taylor, Uzma Atif, Shalan Kamath, Stephanie Halford, Hilary O‘Donnell, David Wilson, Judith Goodship, John Burn, and Peter Scambler

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
Hum. Mol. Genet. 1995 4: 1027-1033; doi:10.1093/hmg/4.6.1027 [Abstract] [PDF] [Request Permissions]  

Magali Loyer, Daniel Leclerc, and Roy A. Gravel

Interallelic complementation of ß-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs
Hum. Mol. Genet. 1995 4: 1035-1039; doi:10.1093/hmg/4.6.1035 [Abstract] [PDF] [Request Permissions]  

Jacqueline M. Horn and Alan Ashworth

A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes
Hum. Mol. Genet. 1995 4: 1041-1047; doi:10.1093/hmg/4.6.1041 [Abstract] [PDF] [Request Permissions]  

Victoria E.H. Carlton, A.S. Knisely, and Nelson B. Freimer

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
Hum. Mol. Genet. 1995 4: 1049-1053; doi:10.1093/hmg/4.6.1049 [Abstract] [PDF] [Request Permissions]  

Yoshihide Sunada, Suzanne M. Bernier, Atsushi Utani, Yoshihiko Yamada, and Kevin P. Campbell

Identification of a novel mutant transcript of laminin 2 chain gene responsible for muscular dystrophy and dysmyelination in dy^2J mice
Hum. Mol. Genet. 1995 4: 1055-1061; doi:10.1093/hmg/4.6.1055 [PDF] [Request Permissions]  

Elisabeth J. Whiting, James D. Waring, Katsuyuki Tamai, Martin J. Somerville, Maxwell Hincke, William A. Staines, Joh-E Ikeda, and Robert G. Korneluk

Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
Hum. Mol. Genet. 1995 4: 1063-1072; doi:10.1093/hmg/4.6.1063 [Abstract] [PDF] [Request Permissions]  

Achih H. Chen, Li Ni, Kunihiro Fukushima, Jacquie Marietta, Marsha O'Neill, Paul Coucke, Patrick Willems, and Richard J.H. Smith

Linkage of a gene for dominant non-syndromic deafness to chromosome 19
Hum. Mol. Genet. 1995 4: 1073-1076; doi:10.1093/hmg/4.6.1073 [Abstract] [PDF] [Request Permissions]  

M. OIdridge, A.O.M. Wilkie, S.F. SIaney, M.D. Poole, L.J. Pulleyn, P. Rutland, A.D. Hockley, M.J.C. Wake, J.H. Goldin, R.M. Winter, W. Reardon, and S. Malcolm

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
Hum. Mol. Genet. 1995 4: 1077-1082; doi:10.1093/hmg/4.6.1077 [Abstract] [PDF] [Request Permissions]  

Satoshi Baba, Sonomi A. Masago, Toshie Takahashi, Takeshi Kasama, Haruhiko Sugimura, Schoichiro Tsugane, Yoshihiro Tsutsui, and Haruyuki Shirasawa

A novel allelic variant of serum amyloic A, SAA1: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA– amyloidosis
Hum. Mol. Genet. 1995 4: 1083-1087; doi:10.1093/hmg/4.6.1083 [Abstract] [PDF] [Request Permissions]  

Spyro Mousses, Hilmi Özçelik, Peter D.Lee, David Malkin, Shelley B.Bull, and Irene L.Andrulis

Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer
Hum. Mol. Genet. 1995 4: 1089-1092; doi:10.1093/hmg/4.6.1089 [Abstract] [PDF] [Request Permissions]  

X.Q. Song, T. Fukao, Y. Suzuki, A. Imamura, A. Uchiyama, N. Shimozawa, N. Kondo, and T. Orii

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient
Hum. Mol. Genet. 1995 4: 1093-1094; doi:10.1093/hmg/4.6.1093 [PDF] [Request Permissions]  

Wuh-Liang Hwu, Shu-Chuan Chuang, Li-Ping Tsai, Mei-Hwei Chang, Sou-Ming Chuang, and Tso-Ren Wang

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la
Hum. Mol. Genet. 1995 4: 1095-1096; doi:10.1093/hmg/4.6.1095 [PDF] [Request Permissions]  

B. de Leeuw, M. Balemans, D.Olde Weghuis, and A.Geurts van Kessel

Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X; 18)(p11.2;q11.2)-positive synoviaol sarcomas
Hum. Mol. Genet. 1995 4: 1097-1099; doi:10.1093/hmg/4.6.1097 [PDF] [Request Permissions]  

Isik G. Yulug, Nicholas Katsanis, Jacqueline de Belleroche, John Collinge, and Elizabeth M.C. Fisher

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon ⁴
Hum. Mol. Genet. 1995 4: 1101-1104; doi:10.1093/hmg/4.6.1101 [PDF] [Request Permissions]  

A. Själander, G. Beckman, H.-X. Deng, Z. lqbal, J.A. Tainer, and T. Siddique

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland
Hum. Mol. Genet. 1995 4: 1105-1108; doi:10.1093/hmg/4.6.1105 [PDF] [Request Permissions]  

J. L.Laplanche, N. Delasnerie-Lauprê tre, J. P.Brandel, M. Dussaucy, J. Chatelain, and J.M. Launay

Two novel insertions in the prion protein gene in patients with lateonset dementia
Hum. Mol. Genet. 1995 4: 1109-1111; doi:10.1093/hmg/4.6.1109 [PDF] [Request Permissions]  

Han-Xiang Deng, John A. Tainer, Hiroshi Mitsumoto, Akio Ohnishi, Xiaoxuan He, Wu-Yen Hung, Yaliang Zhao, Tony Juneja, Afif Hentati, and Teepu Siddique

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
Hum. Mol. Genet. 1995 4: 1113-1116; doi:10.1093/hmg/4.6.1113 [PDF] [Request Permissions]  

REPORTS:

M.Y. Alexander, S.I. Bidichandani, F.M. Cousins, C.J.M. Robinson, E. Duffie, and R.J. Akhurst

Circulating human factor IX produced in keratin promoter transgenic mice: a feasibility study for gene therapy of haemophilia B
Hum. Mol. Genet. 1995 4: 993-999; doi:10.1093/hmg/4.6.993 [Abstract] [PDF] [Request Permissions]  

Ludger Schöls, Ana Maria Menezes Vieira-Saecker, Stephan Schöls, Horst Przuntek, Jörg T. Epplen, and Olaf Riess

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
Hum. Mol. Genet. 1995 4: 1001-1005; doi:10.1093/hmg/4.6.1001 [Abstract] [PDF] [Request Permissions]  

David Kipling, Helen E. Wilson, Eric J. Thomson, and Howard J. Cooke

YAC cloning Mus musculustelomeric DNA: physical, genetic, in situand STS markers for the distal telomere of chromosome 10
Hum. Mol. Genet. 1995 4: 1007-1014; doi:10.1093/hmg/4.6.1007 [Abstract] [PDF] [Request Permissions]  

Hans-Christian Hennies, Wolfgang Küster, Dietmar Mischke, and André Reis

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
Hum. Mol. Genet. 1995 4: 1015-1020; doi:10.1093/hmg/4.6.1015 [Abstract] [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1995 4: 1117; doi:10.1093/hmg/4.6.1117 [PDF] [Request Permissions]  

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