COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome
Top Cited Papers
- 1 June 2002
- journal article
- Published by Elsevier in Kidney International
- Vol. 61 (6) , 1947-1956
- https://doi.org/10.1046/j.1523-1755.2002.00379.x
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutationKidney International, 2000
- Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencingAmerican Journal of Kidney Diseases, 1999
- Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport SyndromeAmerican Journal of Human Genetics, 1998
- Autosomal dominant Alport syndrome linked to the type IV collage 3 and 4 genes (COL4A3 and COL4A4)Nephrology Dialysis Transplantation, 1997
- The clinical spectrum of type IV collagen mutationsHuman Mutation, 1997
- Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.Journal of Clinical Investigation, 1996
- Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndromeHuman Molecular Genetics, 1995
- Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndromeNature Genetics, 1994
- Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndromeHuman Molecular Genetics, 1994
- Identification of Mutations in the COL4A5 Collagen Gene in Alport SyndromeScience, 1990