Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 2
Results: 12
Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
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- Human Mutation, 1997, v. 10, n. 2, p. 100, doi. 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O
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Novel mutations of the tyrosinase ( TYR) gene in type I oculocutaneous albinism (OCA1).
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- Human Mutation, 1997, v. 10, n. 2, p. 171, doi. 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X
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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations.
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- Human Mutation, 1997, v. 10, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J
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Molecular basis of HNPCC: Mutations of MMR genes.
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- Human Mutation, 1997, v. 10, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1997)10:2<89::AID-HUMU1>3.0.CO;2-H
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Identification of a new mutation of the myosin VII head region in Usher syndrome type 1.
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- Human Mutation, 1997, v. 10, n. 2, p. 168, doi. 10.1002/(SICI)1098-1004(1997)10:2<168::AID-HUMU10>3.0.CO;2-Y
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Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
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- Human Mutation, 1997, v. 10, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G
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Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
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- Human Mutation, 1997, v. 10, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-K
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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
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- Human Mutation, 1997, v. 10, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.0.CO;2-I
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Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG<sub>3500</sub>→GLN and ARG<sub>3531</sub>→CYS mutations in a French population.
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- Human Mutation, 1997, v. 10, n. 2, p. 160, doi. 10.1002/(SICI)1098-1004(1997)10:2<160::AID-HUMU8>3.0.CO;2-O
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Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.
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- Human Mutation, 1997, v. 10, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G
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Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
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- Human Mutation, 1997, v. 10, n. 2, p. 175, doi. 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X
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Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
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- Human Mutation, 1997, v. 10, n. 2, p. 155, doi. 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J
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