Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 3
Results: 8
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations.
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- Human Mutation, 1998, v. 12, n. 3, p. 141, doi. 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K
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Detection of known and new mutations in the thiopurine S-methyltransferase gene by single-strand conformation polymorphism analysis.
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- Human Mutation, 1998, v. 12, n. 3, p. 177, doi. 10.1002/(SICI)1098-1004(1998)12:3<177::AID-HUMU5>3.0.CO;2-E
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V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
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- Human Mutation, 1998, v. 12, n. 3, p. 196, doi. 10.1002/(SICI)1098-1004(1998)12:3<196::AID-HUMU7>3.0.CO;2-F
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Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
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- Human Mutation, 1998, v. 12, n. 3, p. 206, doi. 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E
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Five families with arginine<sup>519</sup>-cysteine mutation in COL2A1: Evidence for three distinct founders.
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- Human Mutation, 1998, v. 12, n. 3, p. 172, doi. 10.1002/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J
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Information analysis of human splice site mutations.
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- Human Mutation, 1998, v. 12, n. 3, p. 153, doi. 10.1002/(SICI)1098-1004(1998)12:3<153::AID-HUMU3>3.0.CO;2-I
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Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.
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- Human Mutation, 1998, v. 12, n. 3, p. 145, doi. 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G
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ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
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- Human Mutation, 1998, v. 12, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1998)12:3<186::AID-HUMU6>3.0.CO;2-F
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