Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 3
Results: 23
Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 3, p. 214, doi. 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9
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Erratum.
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- Human Mutation, 1996, v. 8, n. 3, p. 295, doi. 10.1002/humu.1380080303
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PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
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- Human Mutation, 1996, v. 8, n. 3, p. 236, doi. 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7
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Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
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- Human Mutation, 1996, v. 8, n. 3, p. 270, doi. 10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-#
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Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP.
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- Human Mutation, 1996, v. 8, n. 3, p. 282, doi. 10.1002/(SICI)1098-1004(1996)8:3<282::AID-HUMU16>3.0.CO;2-Z
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Glucocerebrosidase (Gaucher disease).
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- Human Mutation, 1996, v. 8, n. 3, p. 207, doi. 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6
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Update on nomenclature for human gene mutations.
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- Human Mutation, 1996, v. 8, n. 3, p. 197, doi. 10.1002/humu.1380080302
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Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.
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- Human Mutation, 1996, v. 8, n. 3, p. 229, doi. 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4
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Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
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- Human Mutation, 1996, v. 8, n. 3, p. 223, doi. 10.1002/(SICI)1098-1004(1996)8:3<223::AID-HUMU5>3.0.CO;2-A
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Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
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- Human Mutation, 1996, v. 8, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z
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New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families.
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- Human Mutation, 1996, v. 8, n. 3, p. 293, doi. 10.1002/(SICI)1098-1004(1996)8:3<293::AID-HUMU19>3.0.CO;2-Y
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Mutation nomenclature: Nicknames, systematic names, and unique identifiers.
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- Human Mutation, 1996, v. 8, n. 3, p. 203, doi. 10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.0.CO;2-A
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Masthead.
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- Human Mutation, 1996, v. 8, n. 3, p. fmi, doi. 10.1002/humu.1380080301
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Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome.
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- Human Mutation, 1996, v. 8, n. 3, p. 265, doi. 10.1002/(SICI)1098-1004(1996)8:3<265::AID-HUMU11>3.0.CO;2-0
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Mutation analysis of phenylketonuria in South Brazil.
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- Human Mutation, 1996, v. 8, n. 3, p. 262, doi. 10.1002/(SICI)1098-1004(1996)8:3<262::AID-HUMU10>3.0.CO;2-0
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Ethnic difference in the pattern of K-ras oncogene mutations in human colorectal cancers.
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- Human Mutation, 1996, v. 8, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1996)8:3<258::AID-HUMU9>3.0.CO;2-5
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Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations.
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- Human Mutation, 1996, v. 8, n. 3, p. 276, doi. 10.1002/(SICI)1098-1004(1996)8:3<276::AID-HUMU14>3.0.CO;2-#
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A familial deletion in the Prader-Willi syndrome region including the imprinting control region.
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- Human Mutation, 1996, v. 8, n. 3, p. 288, doi. 10.1002/(SICI)1098-1004(1996)8:3<288::AID-HUMU18>3.0.CO;2-Z
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An additional mitochondrial tRNA<sup>Ile</sup> point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy.
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- Human Mutation, 1996, v. 8, n. 3, p. 216, doi. 10.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7
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Editorial.
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- Human Mutation, 1996, v. 8, n. 3, p. i, doi. 10.1002/humu.1380080304
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Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations.
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- Human Mutation, 1996, v. 8, n. 3, p. 247, doi. 10.1002/(SICI)1098-1004(1996)8:3<247::AID-HUMU8>3.0.CO;2-6
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Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene.
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- Human Mutation, 1996, v. 8, n. 3, p. 286, doi. 10.1002/(SICI)1098-1004(1996)8:3<286::AID-HUMU17>3.0.CO;2-Z
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Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
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- Human Mutation, 1996, v. 8, n. 3, p. 273, doi. 10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#
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