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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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

By Bowne Sara J.   Daiger Stephen P.   Hims Matthew M.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2121-2128

Oxford University Press

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A Ninth Locus ( RP18 ) for Autosomal Dominant Retinitis Pigmentosa Maps in the Pericentromeric Region of Chromosome 1

By Ying Xu Su   Schwartz Marianne   Rosenberg Thomas   Gal Andreas  

Human Molecular Genetics, Vol. 5, Iss. 8, 1996-01 ,pp. : 1193-1197

Oxford University Press

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Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

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CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 10-15

John Wiley & Sons Inc

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

By Bowne S.J.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 559-568

Oxford University Press

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