Article
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.
The Journal of clinical endocrinology and metabolism - 1 Jun 1996
Okamoto H, Mori Y, Tani Y, Nakagomi Y, Sano T, Ohyama K, Saito H, Oiso Y
Abstract excerpt
T4-binding globulin (TBG) is the major transport protein of thyroid hormone in man. Inherited TBG abnormalities were manifested fully in hemizygous males and partially in heterozygous females and transmitted in an X-chromosome-linked fashion, compatible with its location on Xq21-22. We have previously reported that complete deficiency (CD) and partial deficiency (PD) in Japanese subjects resulted from two...
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