Source:http://linkedlifedata.com/resource/pubmed/id/15312026
| Subject | Predicate | Object | Context |
|---|---|---|---|
| pubmed-article:15312026 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15312026 | lifeskim:mentions | umls-concept:C0242225 | lld:lifeskim |
| pubmed-article:15312026 | lifeskim:mentions | umls-concept:C0086345 | lld:lifeskim |
| pubmed-article:15312026 | pubmed:issue | 4-5 | lld:pubmed |
| pubmed-article:15312026 | pubmed:dateCreated | 2004-8-17 | lld:pubmed |
| pubmed-article:15312026 | pubmed:abstractText | Common variation in colour vision exists among both colour normal and colour deficient subjects. Differences at a few amino acid positions that influence the spectra of the L and M cone pigments account for most of this variation. The genes encoding the L and M photopigments are arranged in head-to-tail arrays on the X-chromosome, beginning with the L and followed by one or more M pigment genes. The L and M pigment genes are highly homologous, which predisposed them to unequal crossing over (recombination) resulting in gene deletions and in formation of L/M hybrid genes that encode a variety of pigments with either L-like or M-like spectra that account for the majority of colour vision defects. Only the first two pigment genes of the L/M array are expressed in the retina and, therefore, need to be considered in predicting colour vision. A common single amino acid polymorphism (serine or alanine) at position 180 of the L-pigment plays an important role both in variation in normal colour vision and in the severity of colour vision defects. Blue cone monochromacy is a rare form of colour vision deficiency that results from mutations that abolish function of both the L and M pigment genes. All the above defects are inherited as X-linked recessive traits. Tritanopia is also a rare autosomal dominant colour vision defect caused by mutations in the S pigment gene located on chromosome 7. Total colour blindness (achromatopsia or rod monochromacy) is a rare autosomal recessive trait caused by mutations in genes encoding the proteins of the photoreceptor cation channel or cone transducin that are essential for function of all classes of cone. | lld:pubmed |
| pubmed-article:15312026 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15312026 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15312026 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15312026 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15312026 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15312026 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:15312026 | pubmed:issn | 0816-4622 | lld:pubmed |
| pubmed-article:15312026 | pubmed:author | pubmed-author:DeebSamir SSS | lld:pubmed |
| pubmed-article:15312026 | pubmed:issnType | lld:pubmed | |
| pubmed-article:15312026 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:15312026 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15312026 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15312026 | pubmed:pagination | 224-9 | lld:pubmed |
| pubmed-article:15312026 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:15312026 | pubmed:meshHeading | pubmed-meshheading:15312026... | lld:pubmed |
| pubmed-article:15312026 | pubmed:meshHeading | pubmed-meshheading:15312026... | lld:pubmed |
| pubmed-article:15312026 | pubmed:meshHeading | pubmed-meshheading:15312026... | lld:pubmed |
| pubmed-article:15312026 | pubmed:meshHeading | pubmed-meshheading:15312026... | lld:pubmed |
| pubmed-article:15312026 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15312026 | pubmed:articleTitle | Molecular genetics of colour vision deficiencies. | lld:pubmed |
| pubmed-article:15312026 | pubmed:affiliation | Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA. | lld:pubmed |
| pubmed-article:15312026 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15312026 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:15312026 | pubmed:publicationType | Review | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:15312026 | lld:pubmed |