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Article

Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese.

The Journal of clinical endocrinology and metabolism - 1 Feb 1996

Inagaki A, Miura Y, Mori Y, Saito H, Seo H, Oiso Y

Abstract excerpt

T4-binding globulin (TBG) is the principal transport protein for thyroid hormone in the circulation. Twelve mutations in the human TBG gene have been reported, and the inheritance of those variant TBGs was shown to be X-chromosome linked. We previously reported a nucleotide deletion at the codon 352 (TBG-CDJ) and a nucleotide substitution at the codon 362 (TBG-PDJ) of the TBG gene in a Japanese male manifesting...

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PMID: 8636271
DOI: 10.1210/jcem.81.2.8636271

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Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese.PMID 8636271Read ↗

Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.Semantic proximity Read ↗

Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause.Semantic proximity Read ↗

Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination.Semantic proximity Read ↗

Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family.Semantic proximity Read ↗

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.Semantic proximity Read ↗

Molecular analysis of females manifesting thyroxine-binding globulin (TBG) deficiency: selective X-chromosome inactivation responsible for the difference between phenotype and genotype in TBG-deficient females.Semantic proximity Read ↗

Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.Semantic proximity Read ↗

Thyroxine-binding globulin: organization of the gene and variants.Semantic proximity Read ↗

Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.Semantic proximity Read ↗

Familial thyroxine-binding globulin deficiency associated with hyperthyroidism.Semantic proximity Read ↗

Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.Semantic proximity Read ↗

Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.Semantic proximity Read ↗

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