A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Autor:	José M. Miralles García, Héctor M. Targovnik, Carina M. Rivolta, Stéphanie Rouleau, Rogelio González-Sarmiento, Cintia E. Citterio, Régis Coutant
Rok vydání:	2011
Předmět:	0303 health sciences Mutation medicine.medical_specialty Endocrinology Diabetes and Metabolism medicine.medical_treatment 030209 endocrinology & metabolism Heterozygote advantage Biology Compound heterozygosity medicine.disease_cause 3. Good health 03 medical and health sciences Congenital goitre 0302 clinical medicine Endocrinology Internal medicine medicine Thyroglobulin Gene Thyroglobulin 030304 developmental biology
Zdroj:	Clinical Endocrinology. 74:533-535
ISSN:	0300-0664
DOI:	10.1111/j.1365-2265.2010.03932.x
Popis:	Fil: Citterio, Cintia Eliana. Consejo Nacional de Investigaciones Cientificas y Tecnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquimica. Departamento de Microbiologia, Inmunologia y Biotecnologia. Catedra de Genetica y Biologia Molecular; Argentina
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9bb9915913cde3b28e4d0c8892824860 https://doi.org/10.1111/j.1365-2265.2010.03932.x Zobrazit plný text záznamu Plný text