Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X)

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 10, 2009, Pages 4003-4009

  Di Cosmo, Caterina ^a   McLellan, Neil ^b   Liao, Xiao Hui ^a   Khanna, Kum Kum ^c   Weiss, Roy E ^a   Papp, Laura ^c   Refetoff, Samuel ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

3,3',5' TRIIODOTHYRONINE; LIOTHYRONINE; SELENIUM; THYROTROPIN;

ADOLESCENT; ADULT; AFRICAN AMERICAN; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; IN VITRO STUDY; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SBP2 GENE; STOP CODON; THYROID DISEASE; THYROID FUNCTION TEST; THYROID HORMONE METABOLISM;

EID: 70349918153     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0686     Document Type: Article

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