| pubmed-article:3372533 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0029434 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0036536 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0766823 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0036537 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C0041455 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C1280500 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C1833770 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:3372533 | lifeskim:mentions | umls-concept:C1333079 | lld:lifeskim |
| pubmed-article:3372533 | pubmed:issue | 17 | lld:pubmed |
| pubmed-article:3372533 | pubmed:dateCreated | 1988-7-13 | lld:pubmed |
| pubmed-article:3372533 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:abstractText | We characterized a de novo 4.5 kilobase pair deletion in the paternally derived alpha 2(I) collagen allele (COL1A2) from a patient with perinatal lethal osteogenesis imperfecta. The intron-to-intron deletion removed the seven exons which encode residues 586-765 of the triple helical domain of the chain. Type I procollagen molecules that contain the mutant pro-alpha 2(I) chain have a lower than normal thermal stability, undergo increased post-translational modification amino-terminal to the deletion junction, and are retained within the rough endoplasmic reticulum. The block to secretion appears to result from improper assembly of the triple helix, apparently a consequence of a disruption of charge-charge interactions between the shortened pro-alpha 2(I) chain and normal pro-alpha 1(I) chains. The lethal effect may be due to decreased secretion of normal collagen and secretion of a small amount of abnormal collagen that disrupts matrix formation. | lld:pubmed |
| pubmed-article:3372533 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3372533 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:3372533 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3372533 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3372533 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:3372533 | pubmed:issn | 0021-9258 | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:HolbrookK AKA | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:ByersP HPH | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:WillingM CMC | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:GreenbergC... | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:CohnD HDH | lld:pubmed |
| pubmed-article:3372533 | pubmed:author | pubmed-author:StarmanBB | lld:pubmed |
| pubmed-article:3372533 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3372533 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:3372533 | pubmed:volume | 263 | lld:pubmed |
| pubmed-article:3372533 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3372533 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3372533 | pubmed:pagination | 8398-404 | lld:pubmed |
| pubmed-article:3372533 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
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| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
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| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
| pubmed-article:3372533 | pubmed:meshHeading | pubmed-meshheading:3372533-... | lld:pubmed |
| pubmed-article:3372533 | pubmed:year | 1988 | lld:pubmed |
| pubmed-article:3372533 | pubmed:articleTitle | Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. | lld:pubmed |
| pubmed-article:3372533 | pubmed:affiliation | Department of Medicine, University of Washington, Seattle 98195. | lld:pubmed |
| pubmed-article:3372533 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3372533 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:3372533 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1278 | entrezgene:pubmed | pubmed-article:3372533 | lld:entrezgene |
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