Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-kankakee)

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 10, 1998, Pages 3604-3608

  Carvalho, Gisah A ^a   Weiss, Roy E ^a   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYROXINE BINDING PROTEIN;

ADULT; ARTICLE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; SEQUENCE ANALYSIS; SPLICEOSOME; TRANSLATION REGULATION; X CHROMOSOME;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA TRANSPOSABLE ELEMENTS; DNA, COMPLEMENTARY; DNA, RECOMBINANT; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN BIOSYNTHESIS; THYROID FUNCTION TESTS; THYROXINE-BINDING PROTEINS;

EID: 0031773503     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.10.3604     Document Type: Article

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