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pro vyhledávání: '"Matthew A. Weir MD, MSc"'
Autor:
Clara Schott BMSc, Samantha Colaiacovo MSc, Cadence Baker MSc, Matthew A. Weir MD, MSc, Dervla M. Connaughton MD, PhD, MSc
Publikováno v:
Canadian Journal of Kidney Health and Disease, Vol 11 (2024)
Rationale: Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes COL4A3, COL4A4 , and COL4A5 . Heterozygous mutations in COL4
Externí odkaz:
https://doaj.org/article/903babd0bb9d43da8a0c1a6d1bccc9dd