The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias

Russian Journal of Genetics

Volumn 48, Issue 9, 2012, Pages 952-961

  Ivanova, E A ^a   Dadali, E L ^a   Fedotov, V P ^b   Kurbatov, S A ^b   Rudenskaya, G E ^a   Proskokova, T N ^c   Polyakov, A V ^a  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^b Regional Diagnostic Center   (Russian Federation)

^c FAR EASTERN STATE MEDICAL UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; GLYCINE; METHIONINE; SERINE; THREONINE; THYROXINE; CHLORIDE CHANNEL; CLCN1 PROTEIN; DNA; GLUTAMINE; MEMBRANE PROTEIN; TYROSINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BECKER DISEASE; CHROMOSOME; CLCN1 GENE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DATABASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MYOTONIA; PRIORITY JOURNAL; RUSSIAN FEDERATION; SINGLE NUCLEOTIDE POLYMORPHISM; THOMSEN DISEASE; BECKER MUSCULAR DYSTROPHY; GENE; GENE MAPPING; GENETIC CODE; SKELETAL MUSCLE;

EID: 84866449130     PISSN: 10227954     EISSN: 16083369     Source Type: Journal    
DOI: 10.1134/S1022795412090049     Document Type: Article

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