Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569423500> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W1569423500 endingPage "10087" @default.
- W1569423500 startingPage "10083" @default.
- W1569423500 abstract "Abstract The perinatal lethal form of osteogenesis imperfecta often results from mutations which disrupt stable assembly, delay secretion, and cause excessive posttranslational modification of type I procollagen molecules. One such mutation was efficiently characterized by an indirect method of RNA sequence analysis. The mutation initially was localized in procollagen by mapping the distribution of abnormal posttranslational modification within the triple helical domain of mutant molecules. Total RNA was isolated from osteogenesis imperfecta cells in culture, cDNA was synthesized using alpha 1(I) and alpha 2(I) specific primers, and fragments of cDNA suspected to harbor the mutation were amplified by the polymerase chain reaction technique and then cloned in M13 vectors. Sequence analysis of the amplified cDNA revealed a new, heterozygous Gly----Val substitution at residue 256 of the triple helical domain of alpha 1(I) chains produced by the perinatal lethal osteogenesis imperfecta cells. The nature and location of the mutation were confirmed by sequence analysis of amplified genomic DNA. A Gly----Val substitution has not previously been associated with the lethal form of osteogenesis imperfecta, and this mutation has the most amino-terminal location within the alpha 1(I) chain triple helical domain reported to date." @default.
- W1569423500 created "2016-06-24" @default.
- W1569423500 creator A5008809646 @default.
- W1569423500 creator A5036241924 @default.
- W1569423500 creator A5045886857 @default.
- W1569423500 date "1989-06-01" @default.
- W1569423500 modified "2023-09-30" @default.
- W1569423500 title "RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation" @default.
- W1569423500 cites W1514121625 @default.
- W1569423500 cites W1517686197 @default.
- W1569423500 cites W1519586751 @default.
- W1569423500 cites W1522824956 @default.
- W1569423500 cites W1539808460 @default.
- W1569423500 cites W1544737871 @default.
- W1569423500 cites W1557077208 @default.
- W1569423500 cites W1579073579 @default.
- W1569423500 cites W1586141849 @default.
- W1569423500 cites W1588199696 @default.
- W1569423500 cites W1606799494 @default.
- W1569423500 cites W1724717646 @default.
- W1569423500 cites W186853567 @default.
- W1569423500 cites W1986244503 @default.
- W1569423500 cites W1996883805 @default.
- W1569423500 cites W2002837417 @default.
- W1569423500 cites W2028891092 @default.
- W1569423500 cites W2032118018 @default.
- W1569423500 cites W2032319180 @default.
- W1569423500 cites W2041869897 @default.
- W1569423500 cites W2048615756 @default.
- W1569423500 cites W2060333964 @default.
- W1569423500 cites W2138270253 @default.
- W1569423500 cites W2146616063 @default.
- W1569423500 cites W2154974204 @default.
- W1569423500 cites W41751146 @default.
- W1569423500 doi "https://doi.org/10.1016/s0021-9258(18)81769-0" @default.
- W1569423500 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2470760" @default.
- W1569423500 hasPublicationYear "1989" @default.
- W1569423500 type Work @default.
- W1569423500 sameAs 1569423500 @default.
- W1569423500 citedByCount "27" @default.
- W1569423500 countsByYear W15694235002013 @default.
- W1569423500 crossrefType "journal-article" @default.
- W1569423500 hasAuthorship W1569423500A5008809646 @default.
- W1569423500 hasAuthorship W1569423500A5036241924 @default.
- W1569423500 hasAuthorship W1569423500A5045886857 @default.
- W1569423500 hasBestOaLocation W15694235001 @default.
- W1569423500 hasConcept C104317684 @default.
- W1569423500 hasConcept C105702510 @default.
- W1569423500 hasConcept C143065580 @default.
- W1569423500 hasConcept C153911025 @default.
- W1569423500 hasConcept C167625842 @default.
- W1569423500 hasConcept C187882448 @default.
- W1569423500 hasConcept C2777668750 @default.
- W1569423500 hasConcept C501734568 @default.
- W1569423500 hasConcept C54355233 @default.
- W1569423500 hasConcept C552990157 @default.
- W1569423500 hasConcept C61053724 @default.
- W1569423500 hasConcept C64348721 @default.
- W1569423500 hasConcept C67705224 @default.
- W1569423500 hasConcept C86803240 @default.
- W1569423500 hasConceptScore W1569423500C104317684 @default.
- W1569423500 hasConceptScore W1569423500C105702510 @default.
- W1569423500 hasConceptScore W1569423500C143065580 @default.
- W1569423500 hasConceptScore W1569423500C153911025 @default.
- W1569423500 hasConceptScore W1569423500C167625842 @default.
- W1569423500 hasConceptScore W1569423500C187882448 @default.
- W1569423500 hasConceptScore W1569423500C2777668750 @default.
- W1569423500 hasConceptScore W1569423500C501734568 @default.
- W1569423500 hasConceptScore W1569423500C54355233 @default.
- W1569423500 hasConceptScore W1569423500C552990157 @default.
- W1569423500 hasConceptScore W1569423500C61053724 @default.
- W1569423500 hasConceptScore W1569423500C64348721 @default.
- W1569423500 hasConceptScore W1569423500C67705224 @default.
- W1569423500 hasConceptScore W1569423500C86803240 @default.
- W1569423500 hasIssue "17" @default.
- W1569423500 hasLocation W15694235001 @default.
- W1569423500 hasOpenAccess W1569423500 @default.
- W1569423500 hasPrimaryLocation W15694235001 @default.
- W1569423500 hasRelatedWork W1994545236 @default.
- W1569423500 hasRelatedWork W2008438578 @default.
- W1569423500 hasRelatedWork W2365102790 @default.
- W1569423500 hasRelatedWork W2371601112 @default.
- W1569423500 hasRelatedWork W237511712 @default.
- W1569423500 hasRelatedWork W2378627662 @default.
- W1569423500 hasRelatedWork W2381230462 @default.
- W1569423500 hasRelatedWork W2460331977 @default.
- W1569423500 hasRelatedWork W2489490822 @default.
- W1569423500 hasRelatedWork W70696207 @default.
- W1569423500 hasVolume "264" @default.
- W1569423500 isParatext "false" @default.
- W1569423500 isRetracted "false" @default.
- W1569423500 magId "1569423500" @default.
- W1569423500 workType "article" @default.