Matches in SemOpenAlex for { <https://semopenalex.org/work/W1965746671> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W1965746671 endingPage "968" @default.
- W1965746671 startingPage "965" @default.
- W1965746671 abstract "The molecular defect responsible for a sporadic case of extremely severe (type II/III) osteogenesis imperfecta was investigated. The mutation site was localised in the collagen type I pro alpha 2 mRNA molecules produced by the proband9s skin fibroblasts by chemical cleavage of mismatch in heteroduplex nucleic acids. Reverse transcription-polymerase chain reaction DNA amplification, followed by cloning and sequencing, showed heterozygosity for a G to T transversion in the first nucleotide of exon 37 of the COL1A2 gene, which led to a cysteine for glycine substitution at position 640 of the triple helical domain. This newly characterised mutation is localised in a domain which contains several milder mutations, confirming that glycine substitutions within the alpha 2(I) chain do not follow a linear gradient pattern for genotype to phenotype correlations. In a subsequent pregnancy, absence of the G2327T mutation in the fetus was shown by allele specific oligonucleotide hybridisation to the trophoblast derived fibroblast mRNA after reverse transcription and in vitro amplification. (The nucleotide number assigned to the mutant base was inferred from the numbering system devised by the Osteogenesis Imperfecta Analysis Consortium (The OIAC Newsletter, 1 April 1994).)" @default.
- W1965746671 created "2016-06-24" @default.
- W1965746671 creator A5014709210 @default.
- W1965746671 creator A5014832094 @default.
- W1965746671 creator A5028560358 @default.
- W1965746671 creator A5048889762 @default.
- W1965746671 creator A5054784875 @default.
- W1965746671 creator A5079565943 @default.
- W1965746671 creator A5084263059 @default.
- W1965746671 date "1994-12-01" @default.
- W1965746671 modified "2023-10-18" @default.
- W1965746671 title "Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation." @default.
- W1965746671 cites W1579073579 @default.
- W1965746671 cites W1967885122 @default.
- W1965746671 cites W2011580908 @default.
- W1965746671 cites W2053895193 @default.
- W1965746671 cites W2098447041 @default.
- W1965746671 cites W2154974204 @default.
- W1965746671 doi "https://doi.org/10.1136/jmg.31.12.965" @default.
- W1965746671 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1016701" @default.
- W1965746671 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7891382" @default.
- W1965746671 hasPublicationYear "1994" @default.
- W1965746671 type Work @default.
- W1965746671 sameAs 1965746671 @default.
- W1965746671 citedByCount "7" @default.
- W1965746671 countsByYear W19657466712018 @default.
- W1965746671 countsByYear W19657466712021 @default.
- W1965746671 crossrefType "journal-article" @default.
- W1965746671 hasAuthorship W1965746671A5014709210 @default.
- W1965746671 hasAuthorship W1965746671A5014832094 @default.
- W1965746671 hasAuthorship W1965746671A5028560358 @default.
- W1965746671 hasAuthorship W1965746671A5048889762 @default.
- W1965746671 hasAuthorship W1965746671A5054784875 @default.
- W1965746671 hasAuthorship W1965746671A5079565943 @default.
- W1965746671 hasAuthorship W1965746671A5084263059 @default.
- W1965746671 hasBestOaLocation W19657466711 @default.
- W1965746671 hasConcept C104317684 @default.
- W1965746671 hasConcept C105702510 @default.
- W1965746671 hasConcept C153911025 @default.
- W1965746671 hasConcept C176944494 @default.
- W1965746671 hasConcept C2777668750 @default.
- W1965746671 hasConcept C36823959 @default.
- W1965746671 hasConcept C501734568 @default.
- W1965746671 hasConcept C54355233 @default.
- W1965746671 hasConcept C64872895 @default.
- W1965746671 hasConcept C86803240 @default.
- W1965746671 hasConceptScore W1965746671C104317684 @default.
- W1965746671 hasConceptScore W1965746671C105702510 @default.
- W1965746671 hasConceptScore W1965746671C153911025 @default.
- W1965746671 hasConceptScore W1965746671C176944494 @default.
- W1965746671 hasConceptScore W1965746671C2777668750 @default.
- W1965746671 hasConceptScore W1965746671C36823959 @default.
- W1965746671 hasConceptScore W1965746671C501734568 @default.
- W1965746671 hasConceptScore W1965746671C54355233 @default.
- W1965746671 hasConceptScore W1965746671C64872895 @default.
- W1965746671 hasConceptScore W1965746671C86803240 @default.
- W1965746671 hasIssue "12" @default.
- W1965746671 hasLocation W19657466711 @default.
- W1965746671 hasLocation W19657466712 @default.
- W1965746671 hasLocation W19657466713 @default.
- W1965746671 hasLocation W19657466714 @default.
- W1965746671 hasOpenAccess W1965746671 @default.
- W1965746671 hasPrimaryLocation W19657466711 @default.
- W1965746671 hasRelatedWork W1985562680 @default.
- W1965746671 hasRelatedWork W2014382593 @default.
- W1965746671 hasRelatedWork W2024128735 @default.
- W1965746671 hasRelatedWork W2058332209 @default.
- W1965746671 hasRelatedWork W2065337855 @default.
- W1965746671 hasRelatedWork W2075026737 @default.
- W1965746671 hasRelatedWork W2140698435 @default.
- W1965746671 hasRelatedWork W2169343696 @default.
- W1965746671 hasRelatedWork W2376297435 @default.
- W1965746671 hasRelatedWork W2421052579 @default.
- W1965746671 hasVolume "31" @default.
- W1965746671 isParatext "false" @default.
- W1965746671 isRetracted "false" @default.
- W1965746671 magId "1965746671" @default.
- W1965746671 workType "article" @default.