New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Molecular and Cellular Endocrinology

Volumn 365, Issue 2, 2013, Pages 277-291

  Citterio, Cintia E ^a,b   Machiavelli, Gloria A ^a,b   Miras, Mirta B ^c   Gruñeiro Papendieck, Laura ^d   Lachlan, Katherine ^e   Sobrero, Gabriela ^c   Chiesa, Ana ^d   Walker, Joanna ^f   Muñoz, Liliana ^c   Testa, Graciela ^c   Belforte, Fiorella S ^a,b   González Sarmiento, Rogelio ^g   Rivolta, Carina M ^a,b   Targovnik, Héctor M ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b INSTITUTO DE INVESTIGACIONES EN INGENIERÍA GENÉTICA Y BIOLOGÍA MOLECULAR   (Argentina)

^c Hospital de Ninos de la Santisima Trinidad   (Argentina)

^d HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f QUEEN ALEXANDRA HOSPITAL   (United Kingdom)

^g CSIC   (Spain)

Author keywords

Goiter; Hypothyroidism; Mutation; Thyroglobulin gene; Truncated thyroglobulin proteins

Indexed keywords

ENDONUCLEASE; THYROGLOBULIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; DNA SEQUENCE; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GOITER; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; MALE; MOLECULAR MODEL; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RESTRICTION MAPPING; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROGLOBULIN BLOOD LEVEL; THYROGLOBULIN GENE; VALIDATION PROCESS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GOITER; HUMANS; HYPOTHYROIDISM; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; STRUCTURAL HOMOLOGY, PROTEIN; THYROGLOBULIN;

EID: 84871389235     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2012.11.002     Document Type: Article

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