A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).
Medizinisches Zentrum für Humangenetik, Philipps-Universität Marburg, Germany.
C
C
Meyer-Kleine
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Ricker
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Otto
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MC
Koch
D000595:Amino Acid Sequence; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005091:Exons; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017433:Protein Structure, Secondary; D017384:Sequence Deletion
D018118:Chloride Channels