Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 7
Results: 22
Erratum.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
- Publication type:
- Article
Corrigendum.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
- Publication type:
- Article
Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1241
- Publication type:
- Article
Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1239
- By:
- Publication type:
- Article
The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1235
- By:
- Publication type:
- Article
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1229
- By:
- Publication type:
- Article
Localisation of a gene for chondrocalcinosis to chromosome 5p.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1225
- By:
- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1147
- By:
- Publication type:
- Article
Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1217
- By:
- Publication type:
- Article
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1209
- By:
- Publication type:
- Article
Mapping of genes predisposing to idiopathic generalized epilepsy.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1201
- By:
- Publication type:
- Article
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1193
- By:
- Publication type:
- Article
A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1155
- By:
- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1213
- By:
- Publication type:
- Article
Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1173
- By:
- Publication type:
- Article
Double mutant alleles: are they rare?
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1169
- By:
- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1163
- By:
- Publication type:
- Article
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2).
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1187
- By:
- Publication type:
- Article
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1183
- By:
- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1137
- By:
- Publication type:
- Article
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1119
- By:
- Publication type:
- Article
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1127
- By:
- Publication type:
- Article