Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 4
Results: 25
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
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- Human Mutation, 1996, v. 7, n. 4, p. 367, doi. 10.1002/(SICI)1098-1004(1996)7:4<367::AID-HUMU14>3.0.CO;2-0
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Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.
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- Human Mutation, 1996, v. 7, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C
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A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.
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- Human Mutation, 1996, v. 7, n. 4, p. 358, doi. 10.1002/(SICI)1098-1004(1996)7:4<358::AID-HUMU11>3.0.CO;2-1
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Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases.
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- Human Mutation, 1996, v. 7, n. 4, p. 283, doi. 10.1002/(SICI)1098-1004(1996)7:4<283::AID-HUMU1>3.0.CO;2-A
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Mutation in the carboxy-terminal propeptide of the proα1 (I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): Possible implications for protein folding.
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- Human Mutation, 1996, v. 7, n. 4, p. 318, doi. 10.1002/(SICI)1098-1004(1996)7:4<318::AID-HUMU5>3.0.CO;2-4
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Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans.
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- Human Mutation, 1996, v. 7, n. 4, p. 370, doi. 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#
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Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene.
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- Human Mutation, 1996, v. 7, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(1996)7:4<355::AID-HUMU10>3.0.CO;2-1
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A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin.
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- Human Mutation, 1996, v. 7, n. 4, p. 374, doi. 10.1002/humu.1380070402
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Mutation detection by solid phase primer extension.
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- Human Mutation, 1996, v. 7, n. 4, p. 346, doi. 10.1002/(SICI)1098-1004(1996)7:4<346::AID-HUMU9>3.0.CO;2-6
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Identification of a novel PAX6 gene mutation in an Aniridia patient.
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- Human Mutation, 1996, v. 7, n. 4, p. 377, doi. 10.1002/(SICI)1098-1004(1996)7:4<377::AID-HUMU19>3.0.CO;2-#
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Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
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- Human Mutation, 1996, v. 7, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B
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Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
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- Human Mutation, 1996, v. 7, n. 4, p. 376, doi. 10.1002/(SICI)1098-1004(1996)7:4<376::AID-HUMU18>3.0.CO;2-#
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Masthead.
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- Human Mutation, 1996, v. 7, n. 4, p. fmi, doi. 10.1002/humu.1380070401
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Erratum.
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- Human Mutation, 1996, v. 7, n. 4, p. 382, doi. 10.1002/humu.1380070405
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Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
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- Human Mutation, 1996, v. 7, n. 4, p. 379, doi. 10.1002/(SICI)1098-1004(1996)7:4<379::AID-HUMU20>3.0.CO;2-Z
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Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.
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- Human Mutation, 1996, v. 7, n. 4, p. 304, doi. 10.1002/(SICI)1098-1004(1996)7:4<304::AID-HUMU3>3.0.CO;2-8
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Deletion of Gly<sup>723</sup> in the insulin receptor substrate-1 of a patient with noninsulin-dependent diabetes mellitus.
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- Human Mutation, 1996, v. 7, n. 4, p. 364, doi. 10.1002/(SICI)1098-1004(1996)7:4<364::AID-HUMU13>3.0.CO;2-0
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Mutations in the BRCA1 gene in Japanese breast cancer patients.
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- Human Mutation, 1996, v. 7, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1996)7:4<334::AID-HUMU7>3.0.CO;2-8
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A donor splice site mutation (1811+1G→C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.
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- Human Mutation, 1996, v. 7, n. 4, p. 375, doi. 10.1002/(SICI)1098-1004(1996)7:4<375::AID-HUMU17>3.0.CO;2-#
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Announcement.
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- Human Mutation, 1996, v. 7, n. 4, p. 381, doi. 10.1002/humu.1380070404
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CDKN2A (p16<sup>INK4A</sup>) somatic and germline mutations.
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- Human Mutation, 1996, v. 7, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(1996)7:4<294::AID-HUMU2>3.0.CO;2-9
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Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
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- Human Mutation, 1996, v. 7, n. 4, p. 361, doi. 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0
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Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.
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- Human Mutation, 1996, v. 7, n. 4, p. 327, doi. 10.1002/(SICI)1098-1004(1996)7:4<327::AID-HUMU6>3.0.CO;2-5
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Identification of a donor splice site mutation leading to loss of p22- phox exon 5 in autosomal chronic granulomatous disease.
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- Human Mutation, 1996, v. 7, n. 4, p. 374, doi. 10.1002/(SICI)1098-1004(1996)7:4<374::AID-HUMU16>3.0.CO;2-#
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Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease.
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- Human Mutation, 1996, v. 7, n. 4, p. 377, doi. 10.1002/humu.1380070403
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