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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2009-8-25
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pubmed:abstractText |
Mutations in the retinitis pigmentosa GTPase regulator gene (RPGR) are estimated to cause up to 20% of all Caucasian retinitis pigmentosa and up to 75% of cases of X-Linked RP (XLRP). Exon open reading frame 15 (ORF15) is a purine-rich mutation hotspot. Mutations in RPGR ORF15 have also been documented to cause X linked cone-rod dystrophy (XLCORD) and atrophic macular degeneration at an unknown frequency.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1468-2079
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1151-4
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19429592-Adolescent,
pubmed-meshheading:19429592-Adult,
pubmed-meshheading:19429592-Codon, Nonsense,
pubmed-meshheading:19429592-DNA Mutational Analysis,
pubmed-meshheading:19429592-Exons,
pubmed-meshheading:19429592-Eye Proteins,
pubmed-meshheading:19429592-Genetic Diseases, X-Linked,
pubmed-meshheading:19429592-Genetic Testing,
pubmed-meshheading:19429592-Genotype,
pubmed-meshheading:19429592-Humans,
pubmed-meshheading:19429592-Male,
pubmed-meshheading:19429592-Middle Aged,
pubmed-meshheading:19429592-Pedigree,
pubmed-meshheading:19429592-Retinal Degeneration,
pubmed-meshheading:19429592-Victoria,
pubmed-meshheading:19429592-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
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pubmed:affiliation |
Centre for Eye Research Australia, 32 Gisborne St, East Melbourne 3002, Australia. jbruddle@gmail.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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