The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Expert consensus guidelines for the genetic diagnosis of Alport syndrome;Savige;Pediatr Nephrol,2019
2. Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome;Wang;J Mol Diagn.,2012
3. Expert guidelines for the management of alport syndrome and thin basement membrane nephropathy;Savige;J Am Soc Nephrol.,2013
4. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group;Kashtan;Kidney Int,2018
5. Alport syndrome: impact of digenic inheritance in patients management;Fallerini;Clin Genet.,2017
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