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

OBJECTIVE: To characterize 2 novel TRPV4 mutations in 2 unrelated families exhibiting the Charcot-Marie-Tooth disease type 2C (CMT2C) phenotype. METHODS: 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 th...

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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811381/ https://www.ncbi.nlm.nih.gov/pubmed/27066566 http://dx.doi.org/10.1212/NXG.0000000000000029

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