Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

By Matsuda Junko  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2709-2723

Oxford University Press

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

By Maw Marion A.   Corbeil Denis  

Human Molecular Genetics, Vol. 9, Iss. 1, 2000-01 ,pp. : 27-34

Oxford University Press

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Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated

By Guay-Woodford Lisa M.  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 769-778

Oxford University Press

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A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

By Chavali Venkata R.M.   Khan Naheed W.   Cukras Catherine A.   Bartsch Dirk-Uwe   Jablonski Monica M.   Ayyagari Radha  

Human Molecular Genetics, Vol. 20, Iss. 10, 2011-05 ,pp. : 2000-2014

Oxford University Press

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Age-related retinal degeneration ( arrd2 ) in a novel mouse model due to a nonsense mutation in the Mdm1 gene

By Chang Bo   Mandal Md Nawajes A.   Chavali Venkata R.M.   Hawes Norman L.   Khan Naheed W.   Hurd Ronald E.   Smith Richard S.   Davisson Muriel L.   Kopplin Laura   Klein Barbara E.K.   Klein Ronald   Iyengar Sudha K.   Heckenlively John R.   Ayyagari Radha  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3929-3941

Oxford University Press

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