Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
The Neurogenetics Branch, NINDS, USA.
Guida
G
Landouré
Jeremy M
JM
Sullivan
Janel O
JO
Johnson
Clare H
CH
Munns
Yijun
Y
Shi
Oumarou
O
Diallo
J Raphael
JR
Gibbs
Rachelle
R
Gaudet
Christy L
CL
Ludlow
Kenneth H
KH
Fischbeck
Bryan J
BJ
Traynor
Barrington G
BG
Burnett
Charlotte J
CJ
Sumner
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D059472:Exome / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D050916:TRPV Cation Channels / Q000235:genetics*
D050916:TRPV Cation Channels; C416986:TRPV4 protein, human