Author:
Aksenova Marina,Shagam Lev
Reference79 articles.
1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. British Medical Journal. 1927;1:504-506. PMID: 20773074
2. Leiden Open Variation database, gene COL4A5. [Internet]. Available from: https://databases.lovd.nl/shared/transcripts/COL4A5 [Accessed: 2018.04.28]
3. Hertz J, Thomassen M, Storey H, Flinter F. Clinical utility gene card for: Alport syndrome. EJHG. 2012;6:20. DOI: 10.1038/ejhg.2011.237
4. Savige J, Storey H, Il Cheong H, Gyung Kang H, et al. X-linked and autosomal recessive Alport syndrome: Pathogenic variant features and further genotype-phenotype correlations. PLoS One. 2016;11(9):e0161802. DOI: 10.1371/journal.pone.0161802
5. Barker D, Pruchno C, Jiang X, Atkin C, Stone E, et al. A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. American Journal of Human Genetics. 1996;6(58):1157-1165. PMID: 8651292