Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 2
Results: 17
Four novel germline mutations of the APC gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 2, p. 193, doi. 10.1002/(SICI)1098-1004(1996)8:2<193::AID-HUMU16>3.0.CO;2-Y
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Clinically applicable mutation screening in familial hypercholesterolemia.
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- Human Mutation, 1996, v. 8, n. 2, p. 168, doi. 10.1002/(SICI)1098-1004(1996)8:2<168::AID-HUMU9>3.0.CO;2-7
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Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS).
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- Human Mutation, 1996, v. 8, n. 2, p. 180, doi. 10.1002/(SICI)1098-1004(1996)8:2<180::AID-HUMU11>3.0.CO;2-Z
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Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
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- Human Mutation, 1996, v. 8, n. 2, p. 149, doi. 10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6
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Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
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- Human Mutation, 1996, v. 8, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9
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Charcot-Marie-Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0.
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- Human Mutation, 1996, v. 8, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1996)8:2<185::AID-HUMU13>3.0.CO;2-Z
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Novel mutations and polymorphisms in the Fanconi anemia group C gene.
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- Human Mutation, 1996, v. 8, n. 2, p. 140, doi. 10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F
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Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.
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- Human Mutation, 1996, v. 8, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1996)8:2<108::AID-HUMU2>3.0.CO;2-7
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Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
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- Human Mutation, 1996, v. 8, n. 2, p. 97, doi. 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M
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New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.
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- Human Mutation, 1996, v. 8, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1996)8:2<183::AID-HUMU12>3.0.CO;2-Z
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Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.
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- Human Mutation, 1996, v. 8, n. 2, p. 134, doi. 10.1002/(SICI)1098-1004(1996)8:2<134::AID-HUMU5>3.0.CO;2-B
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Two new variants of RAG-1 protein predicted by SSCP.
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- Human Mutation, 1996, v. 8, n. 2, p. 191, doi. 10.1002/(SICI)1098-1004(1996)8:2<191::AID-HUMU15>3.0.CO;2-Y
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Allele-specific measurement of low-density lipoprotein receptor transcript levels.
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- Human Mutation, 1996, v. 8, n. 2, p. 126, doi. 10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9
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Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.
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- Human Mutation, 1996, v. 8, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1996)8:2<160::AID-HUMU8>3.0.CO;2-F
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Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia.
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- Human Mutation, 1996, v. 8, n. 2, p. 178, doi. 10.1002/(SICI)1098-1004(1996)8:2<178::AID-HUMU10>3.0.CO;2-#
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Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene.
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- Human Mutation, 1996, v. 8, n. 2, p. 187, doi. 10.1002/(SICI)1098-1004(1996)8:2<187::AID-HUMU14>3.0.CO;2-Z
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Masthead.
- Published in:
- Human Mutation, 1996, v. 8, n. 2, p. fmi, doi. 10.1002/humu.1380080201
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- Article