Article
Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidus.
Nephron. Physiology - 1 Jan 2010
Bockenhauer Detlef, Carpentier Eric, Rochdi Driss, van't Hoff W, Breton Billy, Bernier Virginie, Bouvier Michel, Bichet Daniel G
Abstract excerpt
BACKGROUND/AIMS: Mutations in the type 2 vasopressin receptor gene (AVPR2) underlie X-linked recessive nephrogenic diabetes insipidus (NDI). Here, we report on a family with a mutation in AVPR2, c.262G>A (p.V88M). This recurrently identified mutation was previously shown to abolish AVPR2 function, yet in some affected members, urine osmolalities of up to 570 mosm/kg were observed. We detail the variable clinical...
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