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A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome
BACKGROUND: X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with XLAS, confirm a diagnosis, and provide an ac...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880855/ https://www.ncbi.nlm.nih.gov/pubmed/36714647 http://dx.doi.org/10.3389/fped.2022.1009188 |