The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans

By Dobrowolski Radoslaw   Sasse Philipp   Schrickel Jan W.   Watkins Marcus   Kim Jung-Sun   Rackauskas Mindaugas   Troatz Clemens   Ghanem Alexander   Tiemann Klaus   Degen Joachim   Bukauskas Feliksas F.   Civitelli Roberto   Lewalter Thorsten   Fleischmann Bernd K.   Willecke Klaus  

Human Molecular Genetics, Vol. 17, Iss. 4, 2008-02 ,pp. : 539-554

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 missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families

By Maestrini Elena  

Human Molecular Genetics, Vol. 8, Iss. 7, 1999-07 ,pp. : 1237-1243

Oxford University Press

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A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition

By Cossins Judy   Webster Richard   Maxwell Susan   Burke Georgina   Vincent Angela   Beeson David  

Human Molecular Genetics, Vol. 13, Iss. 23, 2004-12 ,pp. : 2947-2957

Oxford University Press

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Expression of mutant human cystathionine -synthase rescues neonatal lethality but not homocystinuria in a mouse model

By Wang Liqun   Chen Xulin   Tang Baiqing   Hua Xiang   Klein-Szanto Andres   Kruger Warren D.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2201-2208

Oxford University Press

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