pubmed-article:7760863 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:7760863 | lifeskim:mentions | umls-concept:C0035334 | lld:lifeskim |
pubmed-article:7760863 | lifeskim:mentions | umls-concept:C0035499 | lld:lifeskim |
pubmed-article:7760863 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:7760863 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
pubmed-article:7760863 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:7760863 | pubmed:dateCreated | 1995-6-29 | lld:pubmed |
pubmed-article:7760863 | pubmed:abstractText | Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families. | lld:pubmed |
pubmed-article:7760863 | pubmed:language | eng | lld:pubmed |
pubmed-article:7760863 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7760863 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:7760863 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7760863 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7760863 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7760863 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:7760863 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:7760863 | pubmed:month | Feb | lld:pubmed |
pubmed-article:7760863 | pubmed:issn | 0890-8508 | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:FuchsSS | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:GasJJ | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:PrietoFF | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:NájeraCC | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:ParicioNN | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:MillánJ MJM | lld:pubmed |
pubmed-article:7760863 | pubmed:author | pubmed-author:WedemannHH | lld:pubmed |
pubmed-article:7760863 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:7760863 | pubmed:volume | 9 | lld:pubmed |
pubmed-article:7760863 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:7760863 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:7760863 | pubmed:pagination | 67-9 | lld:pubmed |
pubmed-article:7760863 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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pubmed-article:7760863 | pubmed:year | 1995 | lld:pubmed |
pubmed-article:7760863 | pubmed:articleTitle | Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa. | lld:pubmed |
pubmed-article:7760863 | pubmed:affiliation | Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain. | lld:pubmed |
pubmed-article:7760863 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:7760863 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:7760863 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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