| pubmed-article:11875055 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C2350017 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C0241764 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C1419623 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C1704638 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:11875055 | lifeskim:mentions | umls-concept:C0330095 | lld:lifeskim |
| pubmed-article:11875055 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:11875055 | pubmed:dateCreated | 2002-3-4 | lld:pubmed |
| pubmed-article:11875055 | pubmed:abstractText | X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision or photopic (cone) system with preservation of night vision or scotopic (rod) function. The disease presents with a triad of photophobia, loss of color vision and reduced central vision. This phenotype is distinct from retinitis pigmentosa (RP) in which there are prominent night and peripheral vision disturbances. X-linked cone dystrophy is a genetically heterogeneous disorder, with linkage to loci on Xp11.4--Xp21.1 (COD1, OMIM 304020) and Xq27 (COD2, OMIM 303800). COD1 maps to a region that harbors the RPGR gene, mutations in which account for >70% of patients with X-linked RP. The majority of these mutations reside in one purine-rich exon, ORF15, encoding 567 amino acids with a repetitive domain rich in glutamic acid residues. We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two distinct mutations in ORF15 in the RPGR gene (ORF15+1343_1344delGG and ORF15+694_708del15) leading to a frame-shift and premature termination of translation in one case and a deletion of five amino acids in another. Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration. | lld:pubmed |
| pubmed-article:11875055 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11875055 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11875055 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11875055 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11875055 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:11875055 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:PeacheyNeal... | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:YangZhenglinZ | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:MoshfeghiDari... | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:Thirumalaicha... | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:ChorichLouL | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:ShugartYin... | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:FanKekeK | lld:pubmed |
| pubmed-article:11875055 | pubmed:author | pubmed-author:ZhangKangK | lld:pubmed |
| pubmed-article:11875055 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11875055 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:11875055 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:11875055 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11875055 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11875055 | pubmed:pagination | 605-11 | lld:pubmed |
| pubmed-article:11875055 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
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| pubmed-article:11875055 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11875055 | pubmed:articleTitle | Mutations in the RPGR gene cause X-linked cone dystrophy. | lld:pubmed |
| pubmed-article:11875055 | pubmed:affiliation | Cole Eye Institute, I-31, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. | lld:pubmed |
| pubmed-article:11875055 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11875055 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:11875055 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:11875055 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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