An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis

By Jun Albert S.   Meng Huan   Ramanan Naren   Matthaei Mario   Chakravarti Shukti   Bonshek Richard   Black Graeme C.M.   Grebe Rhonda   Kimos Martha  

Human Molecular Genetics, Vol. 21, Iss. 2, 2012-01 ,pp. : 384-393

Oxford University Press

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Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

Oxford University Press

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Fine mapping of the Schnyder’s crystalline corneal dystrophy locus

By Theendakara Veena   Tromp Gerard   Kuivaniemi Helena   White Peter   Panchal Seema   Cox Jennifer   Winters R.   Riebeling Petra   Tost Frank   Hoeltzenbein Maria   Tervo Timo   Henn Wolfram   Denniger Elke   Krause Matthias   Koksal Murat   Kargi Sebnem   Ugurbas Suat   Latvala Terho   Shearman Amanda   Weiss Jayne  

Human Genetics, Vol. 114, Iss. 6, 2004-05 ,pp. : 594-600

Springer Publishing Company

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Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

By zur Stadt Udo  

Human Molecular Genetics, Vol. 14, Iss. 6, 2005-03 ,pp. : 827-834

Oxford University Press

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Mutations in the RPGR gene cause X-linked cone dystrophy

By Yang Z.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 605-611

Oxford University Press

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