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A novel frameshift mutation of COL4A5 in a Chinese family with presumed IgA nephropathy and chronic glomerulonephritis
BACKGROUND: Alport syndrome (ATS) is a hereditary nephritis with hereditary and clinical heterogeneity; the early clinical symptoms are atypical, which can easily lead to misdiagnosis. The proband, a 6‐year‐old girl, was found to have microscopic hematuria, proteinuria, and visual impairment at abou...
| 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/PMC7755774/ https://www.ncbi.nlm.nih.gov/pubmed/32893410 http://dx.doi.org/10.1002/jcla.23558 |