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virtual library in human genetics and molecular biology

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.

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