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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. Hum Genet. 2007 Nov; 122(3-4):413.
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PubMed
subject areas
Amino Acid Substitution
Chloride Channels
Codon
Genes, Recessive
Humans
Mutation, Missense
Myotonia Congenita
authors with profiles
TETSUO ASHIZAWA