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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |