A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus

We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in a case of congenital X-linked nephrogenic diabetes insipidus (NDI). The patient was a 2-mo-old Japanese boy with persistent fever and failure to thrive. He was diagnosed as having congenital NDI by clinical an...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tajima, Asako, Miyata, Ichiro, Katayama, Akira, Toyoda, Shigeru, Eto, Yoshikatsu
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Japanese Society for Pediatric Endocrinology 2005
Pynciau:
Original
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4004929/
https://ncbi.nlm.nih.gov/pubmed/24790307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.14.27
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