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  Arthur Bergen: LITE: Human Molecular Genetics - july contents  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics - july contents
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Sun, 4 Jun 1995 11:05:03 +0100

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


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
     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
     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


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
     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


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

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.

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