Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
- Author
- DUNØ, Morten1 ; COLDING-JØRGENSEN, Eskild2 ; GRUNNET, Morten3 ; JESPERSEN, Thomas3 ; VISSING, John4 ; SCHWARTZ, Marianne1
[1] Department of Clinical Genetics, 4062, University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
[2] Department of Clinical Neurophysiology 3063, University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
[3] Department of Medical Physiology, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen, Denmark
[4] Department of Neurology and The Copenhagen Muscle Research Center, University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark - Source
European journal of human genetics. 2004, Vol 12, Num 9, pp 738-743, 6 p ; ref : 30 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Analyse quantitative Association Canal ionique Caractère dominant Caractère récessif Chlorure Etude comparative Etude familiale Expression génique Fonction perte Gène Maladie héréditaire Milieu familial Muscle Mutation Myotonie Phénotype Réaction chaîne polymérase RT Temps réel Total Neuromusculaire pathologie Système nerveux pathologie
- Keyword (en)
- Quantitative analysis Association Ionic channel Dominant character Recessive character Chlorides Comparative study Family study Gene expression Loss function Gene Genetic disease Family environment Muscle Mutation Myotonia Phenotype Reverse transcription polymerase chain reaction Real time Total Neuromuscular diseases Nervous system diseases
- Keyword (es)
- Análisis cuantitativo Asociación Canal iónico Carácter dominante Carácter recesivo Cloruro Estudio comparativo Estudio familiar Expresión genética Función pérdida Gen Enfermedad hereditaria Medio familiar Músculo Mutación Miotonía Fenotipo Reacción cadena polimerasa transcripción inversa Tiempo real Total Neuromuscular patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16109918
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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