An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

Mutations in the aquaporin-2 (AQP2) water channel gene cause autosomal recessive nephrogenic diabetes insipidus (NDI). Here we report the first patient with an autosomal dominant form of NDI, which is caused by a G866A transition in the AQP2 gene of one allele, resulting in a E258K substitution in t...

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Main Authors: Mulders, S M, Bichet, D G, Rijss, J P, Kamsteeg, E J, Arthus, M F, Lonergan, M, Fujiwara, M, Morgan, K, Leijendekker, R, van der Sluijs, P, van Os, C H, Deen, P M
Formato: Artigo
Idioma:Inglês
Publicado: 1998
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC509065/
https://ncbi.nlm.nih.gov/pubmed/9649557
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