Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

Molecular and Cellular Endocrinology

Volumn 348, Issue 1, 2012, Pages 313-321

  Targovnik, Héctor M ^a,b   Edouard, Thomas ^c   Varela, Viviana ^a   Tauber, Maithé ^c   Citterio, Cintia E ^a   González Sarmiento, Rogelio ^b   Rivolta, Carina M ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c HÔPITAL DES ENFANTS   (France)

Author keywords

Compound heterozygous mutations; Congenital hypothyroidism; Cryptic splice site; Mutation; Thyroglobulin gene

Indexed keywords

LEVOTHYROXINE; MESSENGER RNA; THYROGLOBULIN;

AMINO ACID SEQUENCE; ARTICLE; BIOINFORMATICS; CASE REPORT; CHIMERA; CONGENITAL HYPOTHYROIDISM; DNA SEQUENCE; EXON; FATHER; FEMALE; FRANCE; GENE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; MOTHER; NEWBORN; PRIORITY JOURNAL; RNA SPLICING; THYROGLOBULIN BLOOD LEVEL; THYROGLOBULIN GENE; THYROID GLAND; WILD TYPE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONGENITAL HYPOTHYROIDISM; EXONS; FEMALE; HUMANS; INDEL MUTATION; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN; THYROID GLAND;

EID: 80755133480     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2011.09.024     Document Type: Article

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