Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families-Reference-Cited by-同舟云学术

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

Published:2023-04 Issue:4 Volume:5 Page:100607
ISSN:2590-0595
Container-title:Kidney Medicine
language:en
Short-container-title:Kidney Medicine

Author:

Groen in ’t Woud Sander,Rood Ilse M.,Steenbergen Eric,Willemsen Brigith,Dijkman Henry B.,van Geel Michel,Schoots Jeroen,Wetzels Jack F.M.,Lugtenberg Dorien,Deegens Jeroen K.J.,Bongers Ernie M.H.F.

Publisher

Elsevier BV

Subject

Nephrology,Internal Medicine

Reference42 articles.

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3. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation;van der Loop;Kidney Int,2000

4. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases;Fallerini;Clin Genet,2014

5. Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant Alport syndrome;Kamiyoshi;Clin J Am Soc Nephrol,2016

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3. The Phenotypic Spectrum of COL4A3 Heterozygotes;Kidney International Reports;2023-10

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