The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 8, 2009, Pages 2938-2944

  Pardo, Viviane ^a   Vono Toniolo, Jussara ^a   Rubio, Ileana G S ^a   Knobel, Meyer ^a   Possato, Roberta F ^a   Targovnik, Hector M ^b   Kopp, Peter ^c   Medeiros Neto, Geraldo ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVOTHYROXINE; RECOMBINANT THYROTROPIN; THYROGLOBULIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DNA SEQUENCE; ENDOPLASMIC RETICULUM; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HISTOPATHOLOGY; HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; THYROGLOBULIN DEFICIENCY; THYROIDECTOMY;

EID: 68549107644     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0150     Document Type: Article

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