A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome
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DOI: 10.1007/s12020-019-02152-z
Abstract: Purpose Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC).… read more here.
Keywords: slc12a3; slc12a3 gene; mutation slc12a3; gitelman syndrome ... See more keywords
Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
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DOI: 10.1186/s12887-019-1498-3
Abstract: BackgroundGitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with… read more here.
Keywords: slc12a3; digenetic inheritance; inheritance slc12a3; slc12a3 clcnkb ... See more keywords
Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population
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DOI: 10.3390/ijerph16173207
Abstract: Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical… read more here.
Keywords: risk; snps; slc12a3; polymorphisms pcsk9 ... See more keywords