Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

Clinical Endocrinology

Volumn 67, Issue 3, 2007, Pages 351-357

  Caputo, Mariela ^a   Rivolta, Carina M ^a,b   Esperante, Sebastían A ^a   Gruñeiro Papendieck, Laura ^c   Chiesa, Ana ^c   Pellizas, Claudia G ^a   González Sarmiento, Rogelio ^b   Targovnik, Héctor M ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; ALANINE; CYSTEINE; GLUTAMIC ACID; THYROGLOBULIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; FEMALE; GENE MUTATION; GOITER; HETEROZYGOSITY; HUMAN; INFANT; INTRON; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; GOITER; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; THYROGLOBULIN;

EID: 34548036023     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.02889.x     Document Type: Article

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