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Oxford University Press

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Identification of Functionally Important Regions of the Muscular Chloride Channel ClC-1 by Analysis of Recessive and Dominant Myotonic Mutations

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Molecular Mechanisms of Inherited Arrhythmias

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LIT1 , an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids

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Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1209-1217

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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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