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

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 caused by se...

Descripción completa

Detalles Bibliográficos
Autores principales: Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549549/
https://www.ncbi.nlm.nih.gov/pubmed/32812400
http://dx.doi.org/10.1002/mgg3.1452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549549/
https://www.ncbi.nlm.nih.gov/pubmed/32812400
http://dx.doi.org/10.1002/mgg3.1452

Ejemplares similares