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Mutational analyses of AVPR2 gene in three Japanese families with X‐linked nephrogenic diabetes insipidus: Two recurrent mutations, R137H and ΔV278, caused by the hypermutability at CpG dinucleotides
Author(s) -
Shoji Yutaka,
Takahashi Tsutomu,
Suzuki Yukiko,
Suzuki Takashi,
Komatsu Kazuo,
Hirono Hiyoshi,
Shoji Yasuko,
Yokoyama Takehiko,
Kito Hideyuki,
Takada Goro
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380110188
Subject(s) - biology , nephrogenic diabetes insipidus , gene , cpg site , genetics , mutation , diabetes insipidus , endocrinology , medicine , dna methylation , gene expression