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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Strategems in Vitro for Gene Therapies Directed to Dominant Mutations

By Millington-Ward Sophia   O'Neill Brian   Tuohy Gearoid   Al-Jandal Najma   Kiang Anna-Sophia   Kenna Paul F.   Palfi Arpad   Hayden Patrick   Mansergh Fiona   Kennan Avril   Humphries Peter   Farrar G. Jane  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1415-1426

Oxford University Press

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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

By Bowne Sara J.   Daiger Stephen P.   Hims Matthew M.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2121-2128

Oxford University Press

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

By Fonknechten Nùria  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 637-644

Oxford University Press

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

By Baker Naomi L.  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 279-293

Oxford University Press

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