A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

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Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequ...

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Bibliographic Details
Main Authors: Y. Zhang, F. Zhang, D. Chen, Q. Lü, L. Tang, C. Yang, M. Lei, N. Tong
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Gitelman syndrome
SLC12A3 gene
Homozygous mutant
Pedigree
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001100701&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001100701&lng=en&tlng=en

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