Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 6
Results: 17
Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria.
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- Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU13>3.0.CO;2-J
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Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
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- Human Mutation, 1998, v. 12, n. 6, p. 370, doi. 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S
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Description of a novel RFLP diallelic polymorphism (-127 BsgI C/G) within the 5′ region of insulin gene.
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- Human Mutation, 1998, v. 12, n. 6, p. 435, doi. 10.1002/(SICI)1098-1004(1998)12:6<435::AID-HUMU17>3.0.CO;2-1
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Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.
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- Human Mutation, 1998, v. 12, n. 6, p. 403, doi. 10.1002/(SICI)1098-1004(1998)12:6<403::AID-HUMU6>3.0.CO;2-X
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Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients.
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- Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU12>3.0.CO;2-M
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Mutation Database Meeting, 27th March 1998.
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- Human Mutation, 1998, v. 12, n. 6, p. 367, doi. 10.1002/(SICI)1098-1004(1998)12:6<367::AID-HUMU1>3.0.CO;2-R
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Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma.
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- Human Mutation, 1998, v. 12, n. 6, p. 434, doi. 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7
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Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
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- Human Mutation, 1998, v. 12, n. 6, p. 393, doi. 10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A
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Response to Vincent and Gurling.
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- Human Mutation, 1998, v. 12, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)12:6<432::AID-HUMU11>3.0.CO;2-S
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Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.
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- Human Mutation, 1998, v. 12, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H
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Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
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- Human Mutation, 1998, v. 12, n. 6, p. 385, doi. 10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E
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Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).
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- Human Mutation, 1998, v. 12, n. 6, p. 434, doi. 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.0.CO;2-A
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Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
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- Human Mutation, 1998, v. 12, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K
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Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome.
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- Human Mutation, 1998, v. 12, n. 6, p. 431, doi. 10.1002/(SICI)1098-1004(1998)12:6<431::AID-HUMU10>3.0.CO;2-Y
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Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1).
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- Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU14>3.0.CO;2-G
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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
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- Human Mutation, 1998, v. 12, n. 6, p. 377, doi. 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I
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Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
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- Human Mutation, 1998, v. 12, n. 6, p. 408, doi. 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P
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