Found: 8
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A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 5, p. 261, doi. 10.1111/j.1399-0004.1995.tb04101.x
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- Publication type:
- Article
Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.
- Published in:
- Journal of Perinatal Medicine, 1995, v. 23, n. 3, p. 205
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- Publication type:
- Article
Analysis of published PKD1 gene sequence variants.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome.
- Published in:
- Human Mutation, 1998, v. 11, p. S106, doi. 10.1002/humu.1380110135
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- Publication type:
- Article
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.
- Published in:
- Human Mutation, 1998, v. 11, p. S117, doi. 10.1002/humu.1380110139
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- Publication type:
- Article
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
- Published in:
- 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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- Publication type:
- Article
A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 386, doi. 10.1002/humu.1380030410
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- Publication type:
- Article
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1331
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- Publication type:
- Article