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Registries of immunodeficiency patients and mutations.
- Published in:
- Human Mutation, 1997, v. 10, n. 4, p. 261, doi. 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K
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- Article
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications.
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- Human Mutation, 1997, v. 10, n. 4, p. 268, doi. 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D
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- Article
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations.
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- Human Mutation, 1997, v. 10, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L
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- Article
Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
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- Human Mutation, 1997, v. 10, n. 4, p. 290, doi. 10.1002/(SICI)1098-1004(1997)10:4<290::AID-HUMU4>3.0.CO;2-L
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- Article
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
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- Human Mutation, 1997, v. 10, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G
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- Article
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/ RDS gene.
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- Human Mutation, 1997, v. 10, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J
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- Article
Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome.
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- Human Mutation, 1997, v. 10, n. 4, p. 310, doi. 10.1002/(SICI)1098-1004(1997)10:4<310::AID-HUMU7>3.0.CO;2-K
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- Article
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
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- Human Mutation, 1997, v. 10, n. 4, p. 317, doi. 10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D
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- Article
Quantitative enriched PCR (QEPCR), a highly sensitive method for detection of K- ras oncogene mutation.
- Published in:
- Human Mutation, 1997, v. 10, n. 4, p. 322, doi. 10.1002/(SICI)1098-1004(1997)10:4<322::AID-HUMU9>3.0.CO;2-I
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- Article
P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
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- Human Mutation, 1997, v. 10, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1
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- Article