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Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
BACKGROUND: Alport syndrome (AS; OMIM#308,940) is a hereditary kidney disease that progresses over time and is distinguished by hearing loss and ocular irregularities. The syndrome has three subtypes, namely X-linked (XL; OMIM#301,050), autosomal recessive (AR; OMIM#203,780), and autosomal dominant...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436629/ https://www.ncbi.nlm.nih.gov/pubmed/37596645 http://dx.doi.org/10.1186/s12920-023-01623-7 |