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Article: Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta.

TitleCorrelation of clinical and molecular biological abnormalities in osteogenesis imperfecta.
Authors
Issue Date1989
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03008207.asp
Citation
Connective Tissue Research, 1989, v. 21 n. 1-4, p. 91-95; discussion 95 How to Cite?
AbstractSubstitution of a glycine residue in the triple helix of the alpha 1(I) chain by either arginine, valine or alanine was associated with the type II lethal perinatal osteogenesis imperfecta phenotype. This phenotype was also produced by a frameshift mutation that resulted in an abnormal amino acid sequence of the carboxy-terminal propeptide of the pro-alpha 1(I) chain. The latter baby, however, showed some clinical and radiographic differences from the other babies with type II OI. The severity of the clinical and radiographic phenotypes are likely to be determined by both the type and site of the mutation as well as by the intra-uterine environment.
Persistent Identifierhttp://hdl.handle.net/10722/147343
ISSN
2015 Impact Factor: 1.411
2015 SCImago Journal Rankings: 0.622

 

DC FieldValueLanguage
dc.contributor.authorCole, Wen_US
dc.contributor.authorChan, Den_US
dc.contributor.authorLamande, Sen_US
dc.contributor.authorMascara, Ten_US
dc.contributor.authorRogers, Jen_US
dc.contributor.authorBateman, Jen_US
dc.date.accessioned2012-05-29T06:03:03Z-
dc.date.available2012-05-29T06:03:03Z-
dc.date.issued1989en_US
dc.identifier.citationConnective Tissue Research, 1989, v. 21 n. 1-4, p. 91-95; discussion 95en_US
dc.identifier.issn0300-8207en_US
dc.identifier.urihttp://hdl.handle.net/10722/147343-
dc.description.abstractSubstitution of a glycine residue in the triple helix of the alpha 1(I) chain by either arginine, valine or alanine was associated with the type II lethal perinatal osteogenesis imperfecta phenotype. This phenotype was also produced by a frameshift mutation that resulted in an abnormal amino acid sequence of the carboxy-terminal propeptide of the pro-alpha 1(I) chain. The latter baby, however, showed some clinical and radiographic differences from the other babies with type II OI. The severity of the clinical and radiographic phenotypes are likely to be determined by both the type and site of the mutation as well as by the intra-uterine environment.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03008207.aspen_US
dc.relation.ispartofConnective tissue researchen_US
dc.subject.meshAlanine - Geneticsen_US
dc.subject.meshArginine - Geneticsen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlycine - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMutationen_US
dc.subject.meshOsteogenesis Imperfecta - Classification - Geneticsen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshValine - Geneticsen_US
dc.titleCorrelation of clinical and molecular biological abnormalities in osteogenesis imperfecta.en_US
dc.typeArticleen_US
dc.identifier.emailChan, D:chand@hkucc.hku.hken_US
dc.identifier.authorityChan, D=rp00540en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid2605955-
dc.identifier.scopuseid_2-s2.0-0024809117en_US
dc.identifier.volume21en_US
dc.identifier.issue1-4en_US
dc.identifier.spage91en_US
dc.identifier.epage95; discussion 95en_US
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridCole, W=7201518727en_US
dc.identifier.scopusauthoridChan, D=7402216545en_US
dc.identifier.scopusauthoridLamande, S=7004500719en_US
dc.identifier.scopusauthoridMascara, T=6602227390en_US
dc.identifier.scopusauthoridRogers, J=7404268782en_US
dc.identifier.scopusauthoridBateman, J=16135557700en_US

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