Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the alpha and beta subunits of the epithelial sodium channel

The epithelial sodium channel (ENaC) is composed of three homologous subunits: alpha, beta, and gamma. Mutations in the Scnn1b and Scnn1g genes, which encode the beta and the gamma subunits of ENaC, cause a severe form of hypertension (Liddle syndrome). The contribution of genetic variants within the Scnn1a gene, which codes for the alpha subunit, has not been investigated.


Published in:
Clinical chemistry, 48, 5, 718-28
Year:
2002
Publisher:
American Association for Clinical Chemistry
ISSN:
0009-9147
Keywords:
Laboratories:




 Record created 2012-11-06, last modified 2018-03-17


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