Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 5
Results: 39
CORRIGENDUM.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 852
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- Article
Author index.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 851
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- Article
New human DNA polymorphisms submitted to the genome data base.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 843
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Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 842
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Dinucleotide repeat polymorphism at the NCAM locus.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 842
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(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 841
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Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 841
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Dinucleotide repeat polymorphism at the D3S1255 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 840
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Dinucleotide repeat polymorphism at the D3S666 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 840
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Tetranucleotide repeat polymorphism at the D8S640 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 839
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SSCP/SacI polymorphism in the PAX5 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 839
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Angiotensin II (type-1) receptor locus: CA repeat polymorphism and genetic mapping.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 838
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Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 837
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The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 833
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A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 831
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Ten base pair duplication in exon 38 of the NF1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 829
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SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1).
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 827
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A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 825
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A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 821
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Detection of a premutation in Japanese myotonic dystrophy.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 819
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Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 817
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Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 813
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Identification of five novel mutations in the porphobilinogen deaminase gene.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 809
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Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 801
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Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 793
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Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 787
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A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 779
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Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 729
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The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 771
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Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 751
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Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 745
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Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 741
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BLOCK-based PCR markers to find gene family members in human and comparative genome analysis.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 735
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An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 759
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Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 723
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A gene for hereditary multiple exostoses maps to chromosome 19p.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 717
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A novel nuclear protein binds centromeric alpha satellite DNA.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 711
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Structural analysis of α-satellite DNA and centromere proteins using extended chromatin and chromosomes.
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- Human Molecular Genetics, 1994, v. 3, n. 5, p. 697
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De novo formation of several features of a centromere following introduction of a Y alphoid YAC into mammalian cells.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 5, p. 689
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- Article