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Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report

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dc.contributor.authorSathit Niramitmahapanyaen_US
dc.contributor.authorThitinun Anusornvongchaien_US
dc.contributor.authorSarinee Pingsuthiwongen_US
dc.contributor.authorVeerasak Sarinnapakornen_US
dc.contributor.authorChaicharn Deerochanawongen_US
dc.contributor.authorThongkum Sunthornthepvarakulen_US
dc.contributor.otherRangsit Universityen_US
dc.contributor.otherMahidol Universityen_US
dc.date.accessioned2018-10-19T05:30:16Z
dc.date.available2018-10-19T05:30:16Z
dc.date.issued2013-03-01en_US
dc.description.abstractA 22-year-old Thai man with blue sclera, normal height and absence of deformity sustained an open fracture at the right talus and talo-navicular dislocation while playing in a volleyball match. The patient had a history of several fractures of his elbows, wrists and ankles from minor impacts. Novel COL1A1 nonsense mutation (c.3202 C→T), a C to T transition at position 3,203, resulting in arginine to stop codon at codon 1026 (R1026X) mutation in exon 42 was found, and this is the first case reported in the literature.en_US
dc.identifier.citationJournal of the Medical Association of Thailand. Vol.96, No.SUPPL.3 (2013), 100-103en_US
dc.identifier.issn01252208en_US
dc.identifier.other2-s2.0-84876902661en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/20.500.14594/32460
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84876902661&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleNovel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case reporten_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84876902661&origin=inwarden_US

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