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virtual library in human genetics and molecular biology

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.

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