Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

By Balkany T.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2945-2951

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

By Wollnik Bernd   Kubisch Christian   Steinmeyer Klaus   Pusch Michael  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 805-811

Oxford University Press

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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

By Zelante Leopoldo   Gasparini Paolo   Estivill Xavier  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1605-1609

Oxford University Press

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

By Wollnik Bernd  

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

Oxford University Press

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Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

By Duchatelet Sabine  

Human Molecular Genetics, Vol. 14, Iss. 1, 2005-01 ,pp. : 1-5

Oxford University Press

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