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Article

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

Thyroid : official journal of the American Thyroid Association - 1 Feb 1998

Carvalho G A, Weiss R E, Vladutiu A O, Refetoff S

Abstract excerpt

Complete deficiency of thyroxine-binding globulin (TBG-CD) is defined as undetectable TBG in the serum of affected hemizygous subjects. Four distinct mutations have been identified in the TBG gene that cause this phenotype: TBG-CDJ (Japan), TBG-CD6, TBG-CD5, and TBG-CD Yonago. We report a new mutation producing TBG-CD phenotype. Five family members were studied, including two affected males with undetectable TBG...

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PMID: 9510125
DOI: 10.1089/thy.1998.8.161

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