A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1,WNK4,CUL3, and KLHL3) have been identified to be responsible for this disease. Cullin 3 (CUL3) and KLHL3 are subunits of Cullin–RING E3 ubiquitin l...

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Detalles Bibliográficos
Autores principales: Shao, Leping, Cui, Li, Lu, Jingru, Lang, Yanhua, Bottillo, Irene, Zhao, Xiangzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832971/
https://www.ncbi.nlm.nih.gov/pubmed/29511623
http://dx.doi.org/10.1002/2211-5463.12389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832971/
https://www.ncbi.nlm.nih.gov/pubmed/29511623
http://dx.doi.org/10.1002/2211-5463.12389

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