Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

Abstract Background Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end‐stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X‐linked in the majority of families and caus...

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Bibliografiske detaljer

Principais autores:	Ole Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, Mads Thomassen, Jens Michael Hertz
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2020-10-01
Serier:	Molecular Genetics & Genomic Medicine
Fag:	Alport syndrome COL4A5 de novo mutation mosaicism
Online adgang:	https://doi.org/10.1002/mgg3.1452
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