Open AccessTwo new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions
Author(s) -
Laura Anesi,
Paola de Gemmis,
Daniela Galla,
Uroš Hladnik
Publication year - 2012
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfs359
Subject(s) - nephrogenic diabetes insipidus , medicine , gene , diabetes insipidus , genetics , computational biology , bioinformatics , endocrinology , biology
In this paper, we report two new original deletions and present an extended review of the previously characterized AVPR2 gene deletions to better understand the underlying deletion mechanisms.
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