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Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Human genetics, 2008 Fernando, Morales, Patricia, Cuenca, Gerardo, del Valle, Melissa, Vásquez, Roberto, Brian, Mauricio, Sittenfeld, Keith, Johnson, Xi, Lin, Tetsuo, Ashizawa +8 moreopenaire +1 more sourceCaratterizzazione molecolare dei geni CLCN1, SCN4A, KCNJ2, CACNA1S in pazienti con canalopatie muscolari
2008 S. Pagliarani, S. Lucchiari, S. Corti, M. G. D’Angelo, F. Magri, M. Raimondi, M. Carpo, N. Bresolin, G.P. Comi +8 moreopenaire +1 more source