HUM-MOLGEN archive: LITE: Human Molecular Genetics

================================================================ Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 6 June 1995 ================================================================ Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ================================================================ CONTENTS ================================================================ ARTICLES Distribution of 13 truncating mutations in the neurofibromatosis 1 gene R A Heim, L N W Kam-Morgan, C G Binnie, D D Corns, M C Cayouette, R A Farber, A S Aylsworth, L M Silverman and M C Luce. P. 975 Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2 J-P Frippiat, S C Williams, I M Tomlinson, G P Cook, D Cherif, D Le Paslier, J E Collins, I Dunham, G Winter and M-P Lefranc. P. 983 REPORTS Circulating human factor IX produced in keratin-promoter transgenic mice: a feasibility study for gene therapy of haemophilia B M Y Alexander, S I Bidichandani, F M Cousins, C J M Robinson, E Duffie and R J Akhurst P. 993 Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellarataxia and occurs most frequently in German SCA patients L Schols, A M M Vieira-Saecker, S Schols, H Przuntek, J T Epplen and O Riess P. 1001 YAC cloning Mus musculus telomeric DNA: physical, genetic, in situ and STS markers for the distal telomere of chromosome 10 D Kipling, H E Wilson, E J Thomson and H J Cooke. P. 1007 Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster H-C Hennies, W Kuster, D Mischke and A Reis. P.1015 Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidencefor heterogeneity D P Kelsell, H P Stevens, R Ratnavel, S P Bryant, D T Bishop, I M Leigh and N K Spurr. P. 1021 Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome R Wadey, S Daw, C Taylor, U Atif, S Kamath, S Halford, H O'Donnell, D Wilson, J Goodship, J Burn and P Scambler. P. 1027 Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs M Loyer, D Leclerc and R A Grav P. 1035 A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes J M Horn and A Ashworth P. 1041 Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region V E H Carlton, A S Knisely and N B Freimer. P. 1049 Identification of a novel mutant transcript of laminin alpha2 chain gene responsiblefor muscular dystrophy and dysmyelination in dy2J mice Y Sunada, S M Bernier, A Utani, Y Yamada and K P Campbell. P. 1055 Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue E J Whiting, J D Waring, K Tamai, M J Somerville, M Hincke, W A Staines, J-E Ikeda and R G Korneluk. P. 1063 Linkage of a gene for dominant non-syndromic deafness to chromosome 19 A H Chen, L Ni, K Fukushima, J Marietta, M O'Neill, P Coucke, P Willems and R J H Smith. P. 1073 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome M Oldridge, A O M Wilkie, S F Slaney, 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 P. 1077 A novel allelic variant of serum amyloid A, SAA1gamma: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA- amyloidosis S Baba, S A Masago, T Takahashi, T Kasama, H Sugimura, S Tsugane, Y Tsutsui and H Shirasawa. P. 1083 Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer S Mousses, H Ozcelik, P D Lee, D Malkin, S B Bull. and I L Andrulis P. 1089 MUTATION REPORTS Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient X-Q Song, T Fukao, Y Suzuki, A Imamura, A Uchiyama, N Shimozawa, N Kondo and T Orii. P. 1093 Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia W-L Hwu, S-C Chuang, L-P Tsai, M-H Chang, S-M Chuang and T-R Wang. P. 1095 Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas B de Leeuw, M Balemans, D Olde Weghuis and A Geurts van Kessel. P. 1097 An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4 I G Yulug, N Katsanis, J de Belleroche, J Collinge and E M C Fisher. P. 1101 The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland A Sjalander, G Beckman, H-X Deng, Z Iqbal, J A Tainer and T Siddique. P. 1105 Two novel insertions in the prion protein gene in patients with late-onset dementia J L Laplanche, N Delasnerie-Laupretre, J P Brandel, M Dussaucy, J Chatelain and J M Launey. P. 1109 Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis H-X Deng, J A Tainer, H Mitsumoto, A Ohnishi, X He, W-Y Hung, Y Zhao, T Juneja, A Hentati and T Siddique. P. 1113 Author index P.1117 ================================================================ 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 June 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 25 May 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.