A new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of WNK1 isoforms.

Mutations in the WNK1 gene, encoding a serine-threonine kinase of the WNK (With No lysine (K)) family, have been implicated in two rare human diseases, Familial Hyperkalemic Hypertension (FHHt) and Hereditary Sensory and Autonomic Neuropathy type 2 (HSAN2). Alternative promoters give rise to a ubiqu...

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Bibliographic Details
Main Authors: Emmanuelle Vidal-Petiot, Lydie Cheval, Julie Faugeroux, Thierry Malard, Alain Doucet, Xavier Jeunemaitre, Juliette Hadchouel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3365125?pdf=render