The connexin26 S17F mouse mutant represents a model for the human hereditary keratitisichthyosisdeafness syndrome

By Schtz Melanie   Auth Tanja   Gehrt Anna   Bosen Felicitas   Krber Inken   Strenzke Nicola   Moser Tobias   Willecke Klaus  

Human Molecular Genetics, Vol. 20, Iss. 1, 2011-01 ,pp. : 28-39

Oxford University Press

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Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7

By Furrer Stephanie A.   Waldherr Sarah M.   Mohanachandran Mathini S.   Baughn Travis D.   Nguyen Kien-Thiet   Sopher Bryce L.   Damian Vincent A.   Garden Gwenn A.   La Spada Albert R.  

Human Molecular Genetics, Vol. 22, Iss. 5, 2013-03 ,pp. : 890-903

Oxford University Press

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Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders

By Greenhalgh D.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1737-1744

Oxford University Press

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A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype

By Forlino Antonella  

Human Molecular Genetics, Vol. 14, Iss. 6, 2005-03 ,pp. : 859-871

Oxford University Press

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Conditional Over-Expression of Estrogen Receptor Alpha in a Transgenic Mouse Model

By Hruska K.S.  

Transgenic Research, Vol. 11, Iss. 4, 2002-08 ,pp. : 361-372

Springer Publishing Company

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