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

Author： 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.  

Publisher： Oxford University Press

ISSN： 1460-2083

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

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1342-1348

John Wiley & Sons Inc

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

By Chapple J. Paul   Hardcastle AlisonJ.  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1919-1926

Oxford University Press

Access to resources Recommend Favorite

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic

By Schwarz Nele   Novoselova Tatiana V.   Wait Robin   Hardcastle Alison J.   Cheetham Michael E.  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 863-873

Oxford University Press

Access to resources Recommend Favorite