Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

To characterize 2 novel TRPV4 mutations in 2 unrelated families exhibiting the Charcot-Marie-Tooth disease type 2C (CMT2C) phenotype. Direct CMT gene testing was performed on 2 unrelated families with CMT2C. A 4-fold symmetric tetramer model of human TRPV4 was generated to map the locations of novel...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Neurology. Genetics 2015-12, Vol.1 (4), p.e29-e29
Hauptverfasser:	Sullivan, Jeremy M, Zimanyi, Christina M, Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W, Bird, Thomas D, Siskind, Carly E, Gaudet, Rachelle, Sumner, Charlotte J
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!