MPP1 links the Usher protein network and the Crumbs protein complex in the retina

By Gosens Ilse   van Wijk Erwin   Kersten Ferry F.J.   Krieger Elmar   van der Zwaag Bert   Mrker Tina   Letteboer Stef J.F.   Dusseljee Simone   Peters Theo   Spierenburg Henk A.   Punte Ingrid M.   Wolfrum Uwe   Cremers Frans P.M.   Kremer Hannie   Roepman Ronald  

Human Molecular Genetics, Vol. 16, Iss. 16, 2007-08 ,pp. : 1993-2003

Oxford University Press

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

By Mehalow Adrienne K.  

Human Molecular Genetics, Vol. 12, Iss. 17, 2003-09 ,pp. : 2179-2189

Oxford University Press

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CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila

By Johnson K.   Klebes A.   Knust E.   den Hollander A.I.   de Kok Y.J.M.   Brunner H.G.   Cremers F.P.M.  

Human Molecular Genetics, Vol. 10, Iss. 24, 2001-11 ,pp. : 2767-2773

Oxford University Press

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PTHR1 mutations associated with Ollier disease result in receptor loss of function

By Couvineau Alain   Wouters Vinciane   Bertrand Guylne   Rouyer Christiane   Grard Bndicte   Boon Laurence M.   Grandchamp Bernard   Vikkula Miikka   Silve Caroline  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2766-2775

Oxford University Press

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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