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-Reference-Cited by-同舟云学术

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

Published:2015-03 Issue: Volume:404 Page:102-112
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Citterio Cintia E.^ORCID,Morales Cecilia M.,Bouhours-Nouet Natacha,Machiavelli Gloria A.,Bueno Elena,Gatelais Frédérique,Coutant Regis,González-Sarmiento Rogelio,Rivolta Carina M.,Targovnik Héctor M.

Funder

Universidad de Buenos Aires

CONICET

ANPCyT-FONCyT

FIS

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference65 articles.

1. Detection of T.G. and TO genes compound mutations associated with thyroid carcinoma, toxic goiter and hypothyroidism in Iraqi patients;Abdul-Hassan;J. Med. Sci,2013

2. Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene;Agretti;Eur. J. Pediatr,2013