Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome
- 1 March 1993
- journal article
- Published by Elsevier in Kidney International
- Vol. 43 (3) , 722-729
- https://doi.org/10.1038/ki.1993.103
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen geneKidney International, 1992
- Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndromeKidney International, 1992
- De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndromeHuman Molecular Genetics, 1992
- Alport syndrome caused by a 5′ deletion within the COL4A5 geneHuman Genetics, 1992
- Major rearrangements in the α5(IV) collagen gene in three patients with alport syndromeGenomics, 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
- Structure and biological activity of basement membrane proteinsEuropean Journal of Biochemistry, 1989
- HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITISBMJ, 1927