Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 1
Results: 18
Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
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- Human Mutation, 1996, v. 7, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q
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Mutation analysis in 20 patients with Hunter disease.
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- Human Mutation, 1996, v. 7, n. 1, p. 76, doi. 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P
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Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
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- Human Mutation, 1996, v. 7, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T
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A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
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- Human Mutation, 1996, v. 7, n. 1, p. 59, doi. 10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K
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Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
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- Human Mutation, 1996, v. 7, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-P
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Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
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- Human Mutation, 1996, v. 7, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1996)7:1<85::AID-HUMU17>3.0.CO;2-O
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Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
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- Human Mutation, 1996, v. 7, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q
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Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
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- Human Mutation, 1996, v. 7, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(1996)7:1<52::AID-HUMU7>3.0.CO;2-R
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Masthead.
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- Human Mutation, 1996, v. 7, n. 1, p. fmi, doi. 10.1002/humu.1380070101
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A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
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- Human Mutation, 1996, v. 7, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P
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An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.
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- Human Mutation, 1996, v. 7, n. 1, p. 82, doi. 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O
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Molecular genetics of human antithrombin deficiency.
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- Human Mutation, 1996, v. 7, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.0.CO;2-B
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Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
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- Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N
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Identification of a novel single base insertion in the adenomatous polyposis coli gene.
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- Human Mutation, 1996, v. 7, n. 1, p. 68, doi. 10.1002/(SICI)1098-1004(1996)7:1<68::AID-HUMU11>3.0.CO;2-Q
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New point mutation (R243W) in the hormone binding domain of the c-erbA β1 gene in a family with generalized resistance to thyroid hormone.
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- Human Mutation, 1996, v. 7, n. 1, p. 79, doi. 10.1002/(SICI)1098-1004(1996)7:1<79::AID-HUMU15>3.0.CO;2-P
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Mutations in pyruvate kinase.
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- Human Mutation, 1996, v. 7, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H
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Myelin protein zero ( MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
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- Human Mutation, 1996, v. 7, n. 1, p. 36, doi. 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N
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Chimeric probe-mediated ribonuclease protection assay for molecular diagnosis of mRNA deficiencies.
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- Human Mutation, 1996, v. 7, n. 1, p. 61, doi. 10.1002/(SICI)1098-1004(1996)7:1<61::AID-HUMU9>3.0.CO;2-S
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