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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics - June 1995 contents
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Wed, 10 May 1995 15:46:18 +0100

================================================================
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.


   
 
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