Genetic testing and glomerular hematuria—A nephrologist's perspective
Author:
Affiliation:
1. Division of Pediatric Nephrology University of Minnesota Medical School Minneapolis Minnesota USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31987
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1. HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS
2. Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome
3. Determination of the Genomic Structure of the COL4A4 Gene and of Novel Mutations Causing Autosomal Recessive Alport Syndrome
4. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
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