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Article: Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagen

TitleLethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagen
Authors
Issue Date1984
Citation
British Medical Journal, 1984, v. 288 n. 6415, p. 431-434 How to Cite?
AbstractBroad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair gene deletion in an α1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. One from each set of the patients' clinically unaffected parents also carried the deletion, implying that affected patients were genetic compounds. The study suggests that prenatal diagnosis should be possible with 100% accuracry in subjects without the deletion and with 50% accuracy in those who possess it (who would be either heterozygous - normal, or affected with the disease).
Persistent Identifierhttp://hdl.handle.net/10722/147307
ISSN
2008 Impact Factor: 12.827
2015 SCImago Journal Rankings: 2.567
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorPope, FMen_US
dc.contributor.authorCheah, KSEen_US
dc.contributor.authorNicholls, ACen_US
dc.date.accessioned2012-05-29T06:02:49Z-
dc.date.available2012-05-29T06:02:49Z-
dc.date.issued1984en_US
dc.identifier.citationBritish Medical Journal, 1984, v. 288 n. 6415, p. 431-434en_US
dc.identifier.issn0959-8146en_US
dc.identifier.urihttp://hdl.handle.net/10722/147307-
dc.description.abstractBroad boned lethal osteogenesis imperfecta is a severely crippling disease of unknown cause. By means of recombinant DNA technology a 300 base pair gene deletion in an α1(I)-like collagen gene was detected in six patients and four complete parent-child groups including patients with this disease. One from each set of the patients' clinically unaffected parents also carried the deletion, implying that affected patients were genetic compounds. The study suggests that prenatal diagnosis should be possible with 100% accuracry in subjects without the deletion and with 50% accuracy in those who possess it (who would be either heterozygous - normal, or affected with the disease).en_US
dc.languageengen_US
dc.relation.ispartofBritish Medical Journalen_US
dc.subject.meshBase Compositionen_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshDnaen_US
dc.subject.meshElectrophoresisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshOsteogenesis Imperfecta - Congenital - Genetics - Radiographyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.titleLethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an α1(I)-like collagenen_US
dc.typeArticleen_US
dc.identifier.emailCheah, KSE:hrmbdkc@hku.hken_US
dc.identifier.authorityCheah, KSE=rp00342en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid6419953en_US
dc.identifier.scopuseid_2-s2.0-0021244787en_US
dc.identifier.volume288en_US
dc.identifier.issue6415en_US
dc.identifier.spage431en_US
dc.identifier.epage434en_US
dc.identifier.isiWOS:A1984SC11200007-
dc.identifier.scopusauthoridPope, FM=7005272497en_US
dc.identifier.scopusauthoridCheah, KSE=35387746200en_US
dc.identifier.scopusauthoridNicholls, AC=7103021931en_US

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