Identification of a Gene Disrupted by a Microdeletion in a Patient with X-Linked Retinitis Pigmentosa (XLRP)

By Roepman Ronald   Bauer David   Rosenberg Thomas   van Duijnhoven Gerard   van de Vosse Esther   Platzer Matthias   Rosenthal André   Ropers Hans-Hilger   Cremers Frans P. M.   Berger Wolfgang  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 827-833

Oxford University Press

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Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3)

By Zeiss Caroline J.   Ray Kunal   Acland Gregory M.   Aguirre Gustavo D.  

Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 531-537

Oxford University Press

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Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

By Cheetham M.E.  

Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3065-3074

Oxford University Press

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Deep intronic mutation in OFD1 , identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

By Webb Tom R.   Parfitt David A.   Gardner Jessica C.   Martinez Ariadna   Bevilacqua Dalila   Davidson Alice E.   Zito Ilaria   Thiselton Dawn L.   Ressa Jacob H.C.   Apergi Marina   Schwarz Nele   Kanuga Naheed   Michaelides Michel   Cheetham Michael E.   Gorin Michael B.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 21, Iss. 16, 2012-08 ,pp. : 3647-3654

Oxford University Press

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A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

By Guillonneau Xavier  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1541-1546

Oxford University Press

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