Works matching IS 09646906 AND DT 1995 AND VI 4 AND IP 6
Results: 25
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1101
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Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1113
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Two novel insertions in the prion protein gene in patients with lateonset dementia.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1109
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The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1105
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Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X; 18)(p11.2;q11.2)-positive synoviaol sarcomas.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1097
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Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1095
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Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1093
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Two variants of the CIP1/WAF1 gene occur together and are associated with human cancer.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1089
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A novel allelic variant of serum amyloic A, SAA1γ: genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA– amyloidosis.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1083
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Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1077
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Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1073
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Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1063
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Identification of a novel mutant transcript of laminin α2 chain gene responsible for muscular dystrophy and dysmyelination in dy mice.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1055
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Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1049
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A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1041
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Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1035
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Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1027
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Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1021
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Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1015
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YAC cloning Mus musculustelomeric DNA: physical, genetic, in situand STS markers for the distal telomere of chromosome 10.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1007
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Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1001
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Circulating human factor IX produced in keratin promoter transgenic mice: a feasibility study for gene therapy of haemophilia B.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 993
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Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 983
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Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
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- Human Molecular Genetics, 1995, v. 4, n. 6, p. 975
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Author index.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1117
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- Article