Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6

Molecular and Cellular Endocrinology

Volumn 404, Issue , 2015, Pages 102-112

  Citterio, Cintia E ^a,b   Morales, Cecilia M ^a,b   Bouhours Nouet, Natacha ^c   Machiavelli, Gloria A ^a,b   Bueno, Elena ^d   Gatelais, Frédérique ^c   Coutant, Regis ^c   González Sarmiento, Rogelio ^d   Rivolta, Carina M ^a,b,d   Targovnik, Héctor M ^a,b,d  

^a HOSPITAL DE CLÍNICAS JOSÉ DE SAN MARTÍN   (Argentina)

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

^c ANGERS UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

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

Indexed keywords

GENOMIC DNA; LEVOTHYROXINE; MESSENGER RNA; THYROGLOBULIN; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY; THYROTROPIN; RNA SPLICING;

AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; CASE REPORT; CHILD; COMPOUND HETEROZYGOUS MUTATION; COMPUTER MODEL; CONGENITAL HYPOTHYROIDISM; CRYPTIC SPLICE SITE; DNA FLANKING REGION; DNA SEQUENCE; DRUG DOSE INCREASE; ECHOGRAPHY; EX VIVO STUDY; EXON; EXON 40; EXON 6; EXON SKIPPING; FOLLOW UP; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GOITER; HUMAN; INTRON; MALE; MINIGENE ANALYSIS; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; STOP CODON; TG GENE; THYROGLOBULIN BLOOD LEVEL; THYROID HORMONE SYNTHESIS; VIETNAMESE; WILD TYPE; ADOLESCENT; ANIMAL; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; FEMALE; GENETICS; HELA CELL LINE; HETEROZYGOTE; PATHOLOGY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; VIET NAM;

ADOLESCENT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CERCOPITHECUS AETHIOPS; CONGENITAL HYPOTHYROIDISM; COS CELLS; EXONS; FEMALE; GOITER; HELA CELLS; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN; VIETNAM;

EID: 84922230867     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2015.01.032     Document Type: Article

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