ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence

By Kubisch C.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1753-1760

Oxford University Press

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

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Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1453-1459

Oxford University Press

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Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias

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Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1943-1949

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Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

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Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2861-2867

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Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

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Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 3, 2016-05 ,pp. : 283-291

John Wiley & Sons Inc

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