Title: | TRPV4-pathy, a novel channelopathy affecting diverse systems |
Journal : | Journal of human genetics, 55, 7 |
Authors: | Dai J ; Cho TJ ; Unger S ; Lausch E ; Nishimura G ; Kim OH ; Superti-Furga A |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 400-402 |
Languages: | English |
Keywords : | calcium ; CMT2C ; gène TRPV4 ; genetic mutations ; histopathology ; locomotor system deformities ; phenotypes ; review article ; spinal muscular atrophy ; TRPV4 related disease |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/20505684 |
Pubmed / DOI : | DOI : 10.1038/jhg.2010.37 |