肾性尿崩症中的新型复合水通道蛋白2突变 - Suppr

Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus.

作者信息

Liberatore Junior Raphael D, Carneiro Juliana G, Leidenz Franciele B, Melilo-Carolino Rachel, Sarubi Helena C, De Marco Luiz

机构信息

Faculdade de Medicina de São José do Rio Preto, Department of Pediatrics, Brazil.

出版信息

Clinics (Sao Paulo). 2012;67(1):79-82. doi: 10.6061/clinics/2012(01)13.

DOI:10.6061/clinics/2012(01)13

PMID:22249485

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3248606/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/191a/3248606/06fd71547531/cln-67-01-79-g001.jpg

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Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.功能性鉴定导致部分性和完全性先天性肾性尿崩症的血管加压素受体 2 突变在泰国家庭中的作用。

Horm Res Paediatr. 2010;73(5):349-54. doi: 10.1159/000308167. Epub 2010 Apr 14.

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus.

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