Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 3
Results: 36
Author index.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 529
- Publication type:
- Article
Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 530
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Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 530
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New human DNA polymorphisms submitted to the genome data base.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 525
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- Article
Trinucleotide repeat polymorphism at the PKLR locus.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 523
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Two dinucleotide repeat polymorphisms at the DMD locus.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 523
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A CA repeat polymorphism at D11S1383.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 522
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Bg/ll polymorphism in the UNG gene in 4 populations.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 522
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Tetranucleotide repeat polymorphism in RAF1.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 521
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CGG triple repeat polymorphism in VLDL receptor (VLDL-R) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 521
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Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1).
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 520
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Dinucleotide repeat polymorphism in the VHL region.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 520
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An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 517
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Seven chromosome 22 STR polymorphisms.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 519
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Frequency and stability of the fragile X premutation.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 393
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Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 515
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- Article
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 513
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- Article
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 511
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- Article
Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 507
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Six novel mutations in the α-galactosidase A gene in families with Fabry disease.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 503
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Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 489
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Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 481
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Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 477
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- Article
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 471
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Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1).
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 465
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Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 459
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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 455
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Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 449
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- Publication type:
- Article
Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 447
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Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 443
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- Article
Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26 – 27).
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 437
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Mutations and polymorphisms of the gene encoding the β-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 429
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- Article
Human microsomal epoxide hydrolase: genetic poloymorphism and functional expression in vitro of amino acid variants.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 421
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Exon scanning for mutation of the NF2 gene in schwannomas.
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- Human Molecular Genetics, 1994, v. 3, n. 3, p. 413
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The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 407
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Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 399
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- Article