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Conference Paper: Recurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita

TitleRecurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita
Authors
Chan, DRogers, JFBateman, JFCole, WG
KeywordsMutations
Spondyloepiphyseal dysplasia
Type II collagen
Issue Date1995
PublisherJournal of Rheumatology Publishing Co Ltd. The Journal's web site is located at http://www.jrheum.com
Citation
Journal Of Rheumatology, 1995, v. 22 suppl. 43, p. 37-38 How to Cite?
AbstractA child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of α1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of the COL2A1 gene. The amino acid substitution involved the Y position of a Gly-X-Y triplet.
Persistent Identifierhttp://hdl.handle.net/10722/148702
ISSN
0315-162X
2023 Impact Factor: 3.6
2023 SCImago Journal Rankings: 1.128

 

DC FieldValueLanguage
dc.contributor.authorChan, Den_US
dc.contributor.authorRogers, JFen_US
dc.contributor.authorBateman, JFen_US
dc.contributor.authorCole, WGen_US
dc.date.accessioned2012-05-29T06:17:24Z-
dc.date.available2012-05-29T06:17:24Z-
dc.date.issued1995en_US
dc.identifier.citationJournal Of Rheumatology, 1995, v. 22 suppl. 43, p. 37-38en_US
dc.identifier.issn0315-162Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148702-
dc.description.abstractA child with typical spondyloepiphyseal dysplasia congenita had a recurrent, heterozygous substitution of arginine 789 by cysteine in the triple helical domain of α1 (II) chains of type II collagen. The amino substitution was due to the transition of cytosine 2913 to thymine in exon 41 of the COL2A1 gene. The amino acid substitution involved the Y position of a Gly-X-Y triplet.en_US
dc.languageengen_US
dc.publisherJournal of Rheumatology Publishing Co Ltd. The Journal's web site is located at http://www.jrheum.comen_US
dc.relation.ispartofJournal of Rheumatologyen_US
dc.subjectMutations-
dc.subjectSpondyloepiphyseal dysplasia-
dc.subjectType II collagen-
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshArginine - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshCysteine - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshOsteochondrodysplasias - Congenital - Geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshProcollagen - Geneticsen_US
dc.subject.meshRestriction Mappingen_US
dc.titleRecurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenitaen_US
dc.typeConference_Paperen_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.pmid7752132en_US
dc.identifier.scopuseid_2-s2.0-0028963296en_US
dc.identifier.volume22en_US
dc.identifier.issuesuppl. 43en_US
dc.identifier.spage37en_US
dc.identifier.epage38en_US
dc.publisher.placeCanadaen_US
dc.identifier.scopusauthoridChan, D=7402216545en_US
dc.identifier.scopusauthoridRogers, JF=7404268200en_US
dc.identifier.scopusauthoridBateman, JF=16135557700en_US
dc.identifier.scopusauthoridCole, WG=7201518727en_US
dc.customcontrol.immutablesml 170615 amended-
dc.identifier.issnl0315-162X-

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