Article
Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
Nephron - 1 Jan 1997
Cheong H I, Park H W, Ha I S, Moon H N, Choi Y, Ko K W, Jun J K
Abstract excerpt
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the vasopressin V2 receptor (AVPR2) gene. We analyzed the AVPR2 gene in 6 unrelated Korean families with X-linked NDI, and found 6 novel mutations. Two of them were missense point mutations, 2 were short deletions causing frameshifts, 1 was a duplication of 9 bases, and 1 was a compound gene rearrangement. Four mutations...
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