GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (...

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Detalles Bibliográficos
Autores principales: Waldrop, Elizabeth, Al-Obaide, Mohammed A. I., Vasylyeva, Tetyana L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375066/
https://www.ncbi.nlm.nih.gov/pubmed/30792735
http://dx.doi.org/10.3389/fgene.2019.00044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375066/
https://www.ncbi.nlm.nih.gov/pubmed/30792735
http://dx.doi.org/10.3389/fgene.2019.00044

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