Publication:
Mutation in the thyroid hormone receptor β gene (A317T) in a Thai subject with resistance to thyroid hormone

Simple item page
dc.contributor.authorThongkum Sunthornthepvarakulen_US
dc.contributor.authorKitti Angsusinghaen_US
dc.contributor.authorSupawadee Likitmaskulen_US
dc.contributor.authorSupunnee Ngowngarmratanaen_US
dc.contributor.authorSamuel Refetoffen_US
dc.contributor.otherRajavithi Hospitalen_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherUniversity of Chicagoen_US
dc.date.accessioned2018-07-04T07:41:33Z
dc.date.available2018-07-04T07:41:33Z
dc.date.issued1997-01-01en_US
dc.description.abstractAnalysis of the thyroid hormone receptor β (TRβ) gene of a Thai female with the syndrome of resistance to thyroid hormone (RTH) revealed a missense mutation at codon 317, changing the guanine in nucleotide 1234 to an adenine that results in the replacement of the normal alanine (GCT) with a threonine (ACT). The proposita was heterozygous, and this mutation was not present in her parents and her sister, compatible with a neomutation. This is the first report of TRβ gene mutation causing RTH in an individual of Thai origin.en_US
dc.identifier.citationThyroid. Vol.7, No.6 (1997), 905-907en_US
dc.identifier.doi10.1089/thy.1997.7.905en_US
dc.identifier.issn10507256en_US
dc.identifier.other2-s2.0-0031435508en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/17922
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0031435508&origin=inwarden_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.subjectMedicineen_US
dc.titleMutation in the thyroid hormone receptor β gene (A317T) in a Thai subject with resistance to thyroid hormoneen_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0031435508&origin=inwarden_US

Files

Collections

Scopus 1991-2000