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Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees

Recent evidence has linked novel mutations in the arginine vasopressin receptor 2 gene (AVPR2) and aquaporin-2 gene (AQP2) present in Southeast Asian populations to congenital nephrogenic diabetes insipidus (NDI). To investigate mutations in 2 distinct Chinese pedigrees with NDI patients, clinical d...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Med
Main Authors: Cen, Jing, Nie, Min, Duan, Lian, Gu, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4443092/
https://ncbi.nlm.nih.gov/pubmed/26064258
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