Hum. Mol. Genet. -- Table of Contents (4 [7] )

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Contents: Volume 4, Number 7   July 1995   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       Corrigendum

       ERRATUM

       Author index

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ARTICLES:

Rikki Kolluri, Amro Shehabeldin, Monica Peacocke, Anne-Marie Lamhonwah, Krystyna Teichert-Kuliszewska, Sherman M. Weissman, and Katherine A. Siminovitch: Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
Hum. Mol. Genet. 1995 4: 1119-1126; doi:10.1093/hmg/4.7.1119 [Abstract] [PDF] [Request Permissions]

Jonathan M.J. Derry, Julie A. Kerns, Kenneth I. Weinberg, Hans D. Ochs, Victor Volpini, Xavier Estivill, Ann P. Walker, and Uta Francke: WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Hum. Mol. Genet. 1995 4: 1127-1135; doi:10.1093/hmg/4.7.1127 [Abstract] [PDF] [Request Permissions]

Y. Takiyama, S. Igasrashi, E.A. Rogaeva, K. Endo, E.I. Rogaev, H. Tanaka, R. Sherrington, K. Sanpei, Y. Liang, M. Saito, T. Tsuda, H. Takano, M. Ikeda, C. Lin, H. Chi, J. L. Kennedy, A. E. Lang, J.R. Wherrett, M. Segawa, Y. Nomura, T. Yuasa, J. Weissenbach, M. Yoshida, M. Nishizawa, K.K. Kidd, S. Tsuji, and P.H. St George-Hyslop: Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Hum. Mol. Genet. 1995 4: 1137-1146; doi:10.1093/hmg/4.7.1137 [Abstract] [PDF] [Request Permissions]

Doris Wöhrle, Ingo Kennerknecht, Michael Wolf, Herbert Enders, Sabine Schwemmle, and Peter Steinbach: Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability
Hum. Mol. Genet. 1995 4: 1147-1153; doi:10.1093/hmg/4.7.1147 [Abstract] [PDF] [Request Permissions]

Warren D. kruger and David R. Cox: A yeast assay for functional detection of mutations in the human cystathionine ß-synthase gene
Hum. Mol. Genet. 1995 4: 1155-1161; doi:10.1093/hmg/4.7.1155 [Abstract] [PDF] [Request Permissions]

REPORTS:

M.Rita Passos Bueno, Eloísa S. Moreira, Mariz Vainzof, Jeffrey Chamberlain, Suely K. Marle, Lygia Pereira, Jeanne Akiyama, Steven L. Roberds, Kevin P. Campbell, and Mayana Zatz: A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
Hum. Mol. Genet. 1995 4: 1163-1167; doi:10.1093/hmg/4.7.1163 [Abstract] [PDF] [Request Permissions]

Alexey Savov, Dora Angelicheva, Angeliki Balassopoulou, Albena Jordanova, S. Noussia-Arvanltakis, and Luba Kalaydjieva: Double mutant alleles: are they rare?
Hum. Mol. Genet. 1995 4: 1169-1171; doi:10.1093/hmg/4.7.1169 [Abstract] [PDF] [Request Permissions]

Ina Schmitt, Dletmar Bächner, Dirk Megow, Peter Henkiein, Horst Hamelster, Jörg T. Epplen, and Olaf Riess: Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development
Hum. Mol. Genet. 1995 4: 1173-1182; doi:10.1093/hmg/4.7.1173 [Abstract] [PDF] [Request Permissions]

Osamu Koiwai, Miwako Nishizawa, Kayo Hasada, Sachiko Aono, Yukihiko Adachi, Naoto Mamlya, and Hiroshi Sato: Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
Hum. Mol. Genet. 1995 4: 1183-1186; doi:10.1093/hmg/4.7.1183 [Abstract] [PDF] [Request Permissions]

Miho Matsuda, Naoya Hatano, Hiroshi Ideguchi, Hiroyuki Takahira, and Yasuyuki Fukumaki: A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2^Notame)
Hum. Mol. Genet. 1995 4: 1187-1191; doi:10.1093/hmg/4.7.1187 [Abstract] [PDF] [Request Permissions]

C.Conover Talbot, Jr, Dimitris Avramopouls, Steven Gerken, Aravinda Chakravarti, John A. Armour, Norisada Matsunami, Ray White, and Stylianos E. Antonarakis: The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
Hum. Mol. Genet. 1995 4: 1193-1199; doi:10.1093/hmg/4.7.1193 [Abstract] [PDF] [Request Permissions]

Federico Zara, Amedeo Blanchi, Gluliano Avanzini, Stefano Di Donato, Barbara Castellotti, Pragna I. Patel, and Massimo Pandolfo: Mapping of genes predisposing to idiopathic generalized epilepsy
Hum. Mol. Genet. 1995 4: 1201-1207; doi:10.1093/hmg/4.7.1201 [Abstract] [PDF] [Request Permissions]

Per M. Knappskog, Torgeir Flatmark, Jacques Mallet, Barbara Ludecke, and Klaus Bartholomé: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
Hum. Mol. Genet. 1995 4: 1209-1212; doi:10.1093/hmg/4.7.1209 [Abstract] [PDF] [Request Permissions]

Hisashi Kobayashi, Lisa Baumbach, Tara Cox Matise, Adam Schiavi, Frank Greenberg, and Eric Hoffman: A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2
Hum. Mol. Genet. 1995 4: 1213-1216; doi:10.1093/hmg/4.7.1213 [Abstract] [PDF] [Request Permissions]

Jennifer A. Naylor, David Buck, Peter Green, Helen Williamson, David Bentley, and Francesco Gianneill: Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
Hum. Mol. Genet. 1995 4: 1217-1224; doi:10.1093/hmg/4.7.1217 [Abstract] [PDF] [Request Permissions]

Anne E. Hughes, David McGibbon, Emma Woodward, Josh Dixey, and Michael Doherty: Localisation of a gene for chondrocalcinosis to chromosome 5p
Hum. Mol. Genet. 1995 4: 1225-1228; doi:10.1093/hmg/4.7.1225 [Abstract] [PDF] [Request Permissions]

Woo-Jin Park, Gregory A. Meyers, Xiang Li, Christiane Theda, Donald Day, Seth J. Oriow, Marilyn C. Jones, and Ethylin Wang Jabs: Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
Hum. Mol. Genet. 1995 4: 1229-1233; doi:10.1093/hmg/4.7.1229 [Abstract] [PDF] [Request Permissions]

Manfred Schloesser, Sigrun Hofferbert, Ute Bartz, Gerd Lutze, Bernhard Lämmle, and Wolfgang Engel: The novel acceptor splice site mutation 11396(G $->$ A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients
Hum. Mol. Genet. 1995 4: 1235-1237; doi:10.1093/hmg/4.7.1235 [PDF] [Request Permissions]

MUTATION REPORTS:

Z.E. Enayat, R.W. Orrell, A. Claus, A. Ludolph, R. Bachus, J. Brockmüller, K. Ray-Chaudhuri, A. Radunovic, C. Shaw, J. Wilkinson, A. king, M. Swash, P.N. Leigh, J.de Belleroche, and J. Powell: Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis
Hum. Mol. Genet. 1995 4: 1239-1240; doi:10.1093/hmg/4.7.1239 [PDF] [Request Permissions]

Corrigendum:

: Corrigendum
Hum. Mol. Genet. 1995 4: 1241; doi:10.1093/hmg/4.7.1241 [Abstract] [PDF] [Request Permissions]

ERRATUM:

: Erratum
Hum. Mol. Genet. 1995 4: 1241; doi:10.1093/hmg/4.7.1241-a [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1995 4: 1241; doi:10.1093/hmg/4.7.1241-b [PDF] [Request Permissions]

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