HEREDITARY COMPLETE THYROXINE-BINDING GLOBULIN DEFICIENCY - IDENTIFICATION BY T(3) RESIN UPTAKE TEST AND DNA ANALYSIS

Authors
NOGUCHI T YAMAMORI I TAKAMATSU J NAKAJIMA T MORI Y KUMAHARA Y
Citation
T. Noguchi et al., HEREDITARY COMPLETE THYROXINE-BINDING GLOBULIN DEFICIENCY - IDENTIFICATION BY T(3) RESIN UPTAKE TEST AND DNA ANALYSIS, Japanese journal of medicine, 32(1), 1993, pp. 6-9
Citations number
NO
Journal title
Japanese journal of medicine → ACNP
ISSN journal
00215120
Volume
32
Issue
1
Year of publication
1993
Pages
6 - 9
Database
ISI
SICI code
0021-5120(1993)32:1<6:HCTGD->2.0.ZU;2-J
Abstract
Complete thyroxine-binding globulin deficiency (TBG-CD) was uncovered in a subject receiving a comprehensive health examination. The subject had an abnormally high T3 resin uptake. A family study showed that th e TBG abnormality had been inherited by X-chromosome linkage. Genetic analysis revealed single nucleotide deletion, common among Japanese wi th TBG-CD, from the allele specific amplification of the TBG genes of the family.