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Phenotype-genotype analysis in two Chinese families with Liddle syndrome.

Molecular biology reports - 1 Mar 2014

Gong Ling, Chen Jinxing, Shao Liying, Song Weihua, Hui Rutai, Wang Yibo

Abstract excerpt

The families with Liddle syndrome show marked phenotypic variation in blood pressure, serum potassium and other clinical manifestations. Here we analyzed the correlation of genotype-phenotype in two Chinese families with Liddle syndrome. The sequence of C-terminus of SCNN1B and SCNN1G were screened in the two families with likely Liddle syndrome. In addition to hypertension and hypokalemia, one of the two...

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PMID: 24474657
DOI: 10.1007/s11033-013-3003-7

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