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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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Dettagli Bibliografici
Autori principali: Vidal-Petiot, Emmanuelle, Cheval, Lydie, Faugeroux, Julie, Malard, Thierry, Doucet, Alain, Jeunemaitre, Xavier, Hadchouel, Juliette
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365125/
https://ncbi.nlm.nih.gov/pubmed/22701532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0037751
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