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The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
Background: X-linked Alport syndrome is caused by mutations in the COL4A5 gene, which encodes the a5(IV) chain. No mutations were detected in COL4A5 exons 41A and 41B. Materials and Methods: A Chinese family with suspected Alport syndrome was enrolled in the present study to establish a precise diag...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160674/ https://www.ncbi.nlm.nih.gov/pubmed/32328471 http://dx.doi.org/10.3389/fped.2020.00153 |