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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A novel Caenorhabditis elegans allele, smn-1(cb131) , mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds

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Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 245-260

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

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Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family

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Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3315-3323

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Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5

By Shu Xinhua   Tulloch Brian   Lennon Alan   Vlachantoni Dafni   Zhou Xinzhi   Hayward Caroline   Wright Alan F.  

Human Molecular Genetics, Vol. 15, Iss. 10, 2006-05 ,pp. : 1680-1689

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