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Article

Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.

Pediatric research - 1 Mar 1996

Tajima T, Nakae J, Takekoshi Y, Takahashi Y, Yuri K, Nagashima T, Fujieda K

Abstract excerpt

We identified three novel mutations of the arginine vasopressin (AVP) V2 receptor (AVPR2) gene in Japanese families with X-linked congenital nephrogenic diabetes insipidus (NDI). In kindred #1 of siblings, a single base deletion of one out of three guanosines (nucleotides 786-788, 786delG) was de...

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Source

Identifiers

PMID: 8929875
DOI: 10.1203/00006450-199603000-00022

Genes

AVPR2
AVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8929875-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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