TGB deficiency: Description of two novel mutations associated with complete TBG deficiency and review of the literature

Journal of Molecular Medicine

Volumn 84, Issue 10, 2006, Pages 864-871

  Mannavola, Deborah ^a,b   Vannucchi, Guia ^a,b   Fugazzola, Laura ^a,b   Cirello, Valentina ^a,b   Campi, Irene ^a,b   Radetti, Giorgio ^c   Persani, Luca ^a,d   Refetoff, Samuel ^e   Beck Peccoz, Paolo ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b IRCCS   (Italy)

^c CENTRAL HOSPITAL OF BOLZANO   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e UNIVERSITY OF CHICAGO   (United States)

Author keywords

TBG gene mutations; TBG CD; TBG PD; Thyroid hormones; Thyroxine binding globulin defects

Indexed keywords

NUCLEOTIDE; THYROID HORMONE; THYROTROPIN; THYROXINE BINDING GLOBULIN; THYROXINE BINDING GLOBULIN MILANO; THYROXINE BINDING GLOBULIN NIKITA; UNCLASSIFIED DRUG; THYROXINE BINDING PROTEIN;

CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE TRANSMISSION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INTRON; MALE; MEDICAL DOCUMENTATION; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN FAMILY; PROTEIN STRUCTURE; REVIEW; RNA TRANSLATION; SEX DIFFERENCE; STOP CODON; THYROID HORMONE BLOOD LEVEL; THYROTROPIN BLOOD LEVEL; THYROXINE BINDING GLOBULIN DEFICIENCY; X CHROMOSOME LINKAGE; AGED; BIOLOGICAL MODEL; CASE REPORT; CHILD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; ISOELECTRIC FOCUSING; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE;

AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISOELECTRIC FOCUSING; MALE; MIDDLE AGED; MODELS, GENETIC; PEDIGREE; THYROXINE-BINDING PROTEINS;

EID: 33749186774     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-006-0078-9     Document Type: Review

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