HUM-MOLGEN archive: LITE: Human Molecular Genetics

================================================================ Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 7 July 1995 ================================================================ Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ================================================================ CONTENTS ================================================================ ARTICLES Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus R Kolluri, A Shehabeldin, M Peacocke, A-M Lamhonwah, K Teichert-Kuliszewska, S M Weissman and K A Siminovitch. P.1119 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia J M J Derry, J A Kerns, K I Weinberg, H D Ochs, V Volpini, X Estivill, A P Walker and U Franke. P.1127 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 Y Takiyama, S Igarashi, 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. P.1137 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 D Wohrle, I Kennerknecht, M Wolf, H Enders, S Schwemmle and P Steinbach. P.1147 A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene W D Kruger and D R Cox. P.1155 REPORTS 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 M R Passos Bueno, E S Moreira, M Vainzof, J Chamberlain, S K Marie, L Pereira, J Akiyama, S L Roberds, K P Campbell and M Zatz. P.1163 Double mutant alleles: are they rare? A Savov, D Angelicheva, A Balassopoulou, A Jordanova, S Noussia-Arvanitakis and L Kalaydjieva. P.1169 Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development I Schmitt, D Bachner, D Megow, P Henklein, H Hameister, J T Epplen and O Riess. P.1173 Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase O Koiwai, M Nishizawa, K Hasada, S Aono, Y Adachi, N Mamiya and H Sato. P.1183 A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2 Notame) M Matsuda, N Hatano, H Ideguchi, H Takahira and Y Fukumaki. P.1187 The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells C C Talbot Jr, D Avramopoulos, S Gerken, A Chakravarti, J A Armour, N Matsunami, R White and S E Antonarakis. P.1193 Mapping of genes predisposing to idiopathic generalized epilepsy F Zara, A Bianchi, G Avanzini, S Di Donato, B Castellotti, P I Patel and M Pandolfo. P.1201 Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene P M Knappskog, T Flatmark, J Mallet, B Ludecke and K Bartholome. P.1209 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 H Kobayashi, L Baumbach, T C Matise, A Schiavi, F Greenberg and E P Hoffman. P.1213 Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions J A Naylor, D Buck, P Green, H Williamson, D Bentley and F Giannelli. P.1217 Localisation of a gene for chondrocalcinosis to chromosome 5p A E Hughes, D McGibbon, E Woodward, J Dixey and M Doherty. P.1225 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability W-J Park, G A Meyers, X Li, C Theda, D Day, S J Orlow, M C Jones and E W Jabs. P.1229 MUTATION REPORTS The novel acceptor splice site mutation 11396(G to A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients M Schloesser, S Hofferbert, U Bartz, G Lutze, B Lammle and W Engel. P.1235 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis Z E Enayat, R W Orrell, A Claus, A Ludolph, R Bachus, J Brockmuller, K Ray-Chaudhuri, A Radunovic, C Shaw, J Wilkinson, A King, M Swash, P N Leigh, J de Belleroche and J Powell. P.1239 Author index P.1241 ================================================================ Human Molecular Genetics is a monthly journal of original peer- reviewed research, published by Oxford University Press. In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year. The papers listed above will appear in the July 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 June 1995. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Richard Gedye Oxford University Press Walton Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267785 Fax: +44 1865 267782 E-Mail: gedyer@oup.co.uk Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder.