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Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene

✍ Scribed by Mia Færch; Jane H. Christensen; Thomas J. Corydon; Konstantinos Kamperis; Francis De Zegher; Niels Gregersen; Gary L. Robertson; Søren Rittig


Book ID
108703938
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
355 KB
Volume
68
Category
Article
ISSN
0300-0664

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Two novel types of contiguous gene delet
✍ Masashi Demura; Yoshiyu Takeda; Takashi Yoneda; Kenji Furukawa; Mikiya Usukura; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 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 (5¢ -TGAAGG-3¢) and polypurine runs,