title: Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
authors: 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
authors: Fernando
authors: F
authors: Morales
authors: Patricia
authors: P
authors: Cuenca
authors: Gerardo
authors: G
authors: del Valle
authors: Melissa
authors: M
authors: Vásquez
authors: Roberto
authors: R
authors: Brian
authors: Mauricio
authors: M
authors: Sittenfeld
authors: Keith
authors: K
authors: Johnson
authors: Xi
authors: X
authors: Lin
authors: Tetsuo
authors: T
authors: Ashizawa
mesh_terms: 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*
chemical_list: C086321:CLC-1 channel; D018118:Chloride Channels; D003062:Codon