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Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

โœ Scribed by Sei Sasaki, Motoko Chiga, Eriko Kikuchi, Tatemitsu Rai, Shinichi Uchida


Book ID
120962102
Publisher
Springer
Year
2012
Tongue
English
Weight
202 KB
Volume
17
Category
Article
ISSN
1342-1751

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Two novel types of contiguous gene delet
โœ Masashi Demura; Yoshiyu Takeda; Takashi Yoneda; Kenji Furukawa; Mikiya Usukura; ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 346 KB

Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5ยข -TGAAGG-3ยข) and polypurine runs,