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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Detalles Bibliográficos
Autores principales: Vidal-Petiot, Emmanuelle, Cheval, Lydie, Faugeroux, Julie, Malard, Thierry, Doucet, Alain, Jeunemaitre, Xavier, Hadchouel, Juliette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365125/
https://www.ncbi.nlm.nih.gov/pubmed/22701532
http://dx.doi.org/10.1371/journal.pone.0037751

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365125/
https://www.ncbi.nlm.nih.gov/pubmed/22701532
http://dx.doi.org/10.1371/journal.pone.0037751

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