Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Morales
Fernando
F
Universidad de Costa Rica, Instituto de Investigaciones en Salud, San Perdo de Montes de Oca, 2060, 2060 San Jose, Costa Rica. famorale@cariari.ucr.ac.cr
Cuenca
Patricia
P
del Valle
Gerardo
G
Vásquez
Melissa
M
Brian
Roberto
R
Sittenfeld
Mauricio
M
Johnson
Keith
K
Lin
Xi
X
Ashizawa
Tetsuo
T
D019943:Amino Acid Substitution; D018118:Chloride Channels / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D020125:Mutation, Missense; D009224:Myotonia Congenita / Q000235:genetics*
C086321:CLC-1 channel; D018118:Chloride Channels; D003062:Codon