Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

European Journal of Human Genetics

Volumn 12, Issue 9, 2004, Pages 738-743

  Dunø, Morten ^a   Colding Jørgensen, Eskild ^a   Grunnet, Morten ^b,d   Jespersen, Thomas ^b   Vissing, John ^c   Schwartz, Marianne ^a  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c Mental Health Services CPH   (Denmark)

^d NEUROSEARCH A S   (Denmark)

Author keywords

Allelic variation; CLCN1; Myotonia congenital

Indexed keywords

CHLORIDE CHANNEL; MEMBRANE PROTEIN; MESSENGER RNA; PROTEIN CLCN1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THOMSEN DISEASE;

ALLELES; CHLORIDE CHANNELS; DNA PRIMERS; GENE EXPRESSION; HUMANS; INHERITANCE PATTERNS; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 4644351105     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201218     Document Type: Article

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