The human retinitis pigmentosa GTPase regulator gene variant database

Xinhua Shu; Ewan McDowall; Alastair F Brown; Alan F Wright

doi:10.1002/humu.20733

The human retinitis pigmentosa GTPase regulator gene variant database

Xinhua Shu, Ewan McDowall, Alastair F Brown, Alan F Wright

Research output: Contribution to journal › Article › peer-review

Abstract

X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous retinal degeneration. The major subtype of XLRP is RP3, which accounts for 6 to 20% of all RP cases. Mutations in the RP3 gene, called RP GTPase regulator (RPGR), cause a number of different retinopathies. An RPGR database has been created using the Leiden Open Source Variation Database (LOVD) software system and has comprehensive search and analysis tools. This database is a central resource of RPGR sequence variant data for investigators and will facilitate the interpretation of new mutations, variants, and polymorphisms when these are identified in patients. The database is available on the Internet (http://rpgr.hgu.mrc.ac.uk).

Original language	English
Pages (from-to)	605-8
Number of pages	4
Journal	Human Mutation: Variation, Informatics and Disease
Volume	29
Issue number	5
DOIs	https://doi.org/10.1002/humu.20733
Publication status	Published - May 2008

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10.1002/humu.20733

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abstract = "X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous retinal degeneration. The major subtype of XLRP is RP3, which accounts for 6 to 20% of all RP cases. Mutations in the RP3 gene, called RP GTPase regulator (RPGR), cause a number of different retinopathies. An RPGR database has been created using the Leiden Open Source Variation Database (LOVD) software system and has comprehensive search and analysis tools. This database is a central resource of RPGR sequence variant data for investigators and will facilitate the interpretation of new mutations, variants, and polymorphisms when these are identified in patients. The database is available on the Internet (http://rpgr.hgu.mrc.ac.uk).",

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AB - X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous retinal degeneration. The major subtype of XLRP is RP3, which accounts for 6 to 20% of all RP cases. Mutations in the RP3 gene, called RP GTPase regulator (RPGR), cause a number of different retinopathies. An RPGR database has been created using the Leiden Open Source Variation Database (LOVD) software system and has comprehensive search and analysis tools. This database is a central resource of RPGR sequence variant data for investigators and will facilitate the interpretation of new mutations, variants, and polymorphisms when these are identified in patients. The database is available on the Internet (http://rpgr.hgu.mrc.ac.uk).

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The human retinitis pigmentosa GTPase regulator gene variant database

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