Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing
- 30 November 1999
- journal article
- Published by Elsevier in American Journal of Kidney Diseases
- Vol. 34 (5) , 854-862
- https://doi.org/10.1016/s0272-6386(99)70042-9
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndromeKidney International, 1996
- Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies.The Journal of cell biology, 1995
- COLLAGENS: Molecular Biology, Diseases, and Potentials for TherapyAnnual Review of Biochemistry, 1995
- Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndromeHuman Molecular Genetics, 1994
- COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndromeKidney International, 1993
- Illegitimate (or ectopic) transcription proceeds through the usual promotersBiochemical and Biophysical Research Communications, 1991
- Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndromeGenomics, 1991
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- The clinical spectrum of hereditary nephritisKidney International, 1985