Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference12 articles.
1. Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions;Anesi;Nephrol. Dial. Transplant.,2012
2. Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment;Moeller;Endocr. Rev.,2013
3. A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family;Saglar;Endocrine,2014
4. Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature;Neocleous;Metabolism,2012
5. X-linked recessive nephrogenic diabetes insipidus: a clinico-genetic study;Hong;J. Pediatr. Endocrinol. Metab.,2014
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