Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome
- 1 July 1992
- journal article
- case report
- Published by Elsevier in Kidney International
- Vol. 42 (1), 83-88
- https://doi.org/10.1038/ki.1992.264
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Major rearrangements in the α5(IV) collagen gene in three patients with alport syndromeGenomics, 1991
- Recurrent primary disease and de novo nephritis following renal transplantationPediatric Nephrology, 1991
- Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndromeGenomics, 1991
- Identification of Mutations in the COL4A5 Collagen Gene in Alport SyndromeScience, 1990
- Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.Proceedings of the National Academy of Sciences, 1990
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Localization of the gene for classic Alport syndromeGenomics, 1989
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Localization of the gene for X-linked Alport's syndromeKidney International, 1988
- Genetic heterogeneity of Alport syndromeKidney International, 1985