WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).

Hereditary sensory and autonomic neuropathy type 2 (HSNAII) is a rare pathology characterized by an early onset of severe sensory loss (all modalities) in the distal limbs. It is due to autosomal recessive mutations confined to exon "HSN2" of the WNK1 (with-no-lysine protein kinase 1) seri...

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書誌詳細

出版年:	PLoS Genetics
主要な著者:	Valérie Bercier, Edna Brustein, Meijiang Liao, Patrick A Dion, Ronald G Lafrenière, Guy A Rouleau, Pierre Drapeau
フォーマット:	論文
言語:	英語
出版事項:	Public Library of Science (PLoS) 2013-01-01
オンライン･アクセス:	https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003124&type=printable