Open AccessA Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families
Author(s) -
Θεοδώρα Παππά,
Lars C. Moeller,
Deborah V. Edidin,
Silvana Pannain,
Samuel Refetoff
Publication year - 2017
Publication title -
european thyroid journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.23
H-Index - 10
eISSN - 2235-0802
pISSN - 2235-0640
DOI - 10.1159/000455097
Subject(s) - thyroxine binding globulin , medicine , endocrinology , globulin , mutation , gene , thyroxine binding proteins , genetics , thyroid function tests , biology , hormone , thyroid hormones
Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein in serum. Located on the long arm of the X chromosome, TBG ( SERPINA7 ) gene mutations most commonly produce inherited partial TBG deficiency (TBG-PD).
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