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Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome
Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV. Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome. The patient was a 25-year-old Chinese woman. She has a histo...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7673930/ https://www.ncbi.nlm.nih.gov/pubmed/33524082 http://dx.doi.org/10.1155/2020/1626378 |