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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Principais autores:	Ole Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, Mads Thomassen, Jens Michael Hertz
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Wiley 2020-10-01
סדרה:	Molecular Genetics & Genomic Medicine
נושאים:	Alport syndrome COL4A5 de novo mutation mosaicism
גישה מקוונת:	https://doi.org/10.1002/mgg3.1452
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!