Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive
Hum Genet
.
2007 Nov;122(3-4):413.
doi: 10.1007/s00439-007-0411-6.
Authors
Fernando Morales
1
,
Patricia Cuenca
,
Gerardo del Valle
,
Melissa Vásquez
,
Roberto Brian
,
Mauricio Sittenfeld
,
Keith Johnson
,
Xi Lin
,
Tetsuo Ashizawa
Affiliation
1
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
PMID:
17717708
DOI:
10.1007/s00439-007-0411-6
No abstract available
MeSH terms
Amino Acid Substitution
Chloride Channels / genetics*
Codon / genetics
Genes, Recessive
Humans
Mutation, Missense
Myotonia Congenita / genetics*
Substances
CLC-1 channel
Chloride Channels
Codon