Functional characterization of the novel sequence variant...

Journal of Pediatric Endocrinology and Metabolism 2015 / 01 Vol. 28; Iss. 7-8

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taise Lima Oliveira, Carré, Aurore, Chevrier, Lucie, Szinnai, Gabor, Tron, Elodie, Léger, Juliane, Cabrol, Sylvie, Queinnec, Chrystelle, De Roux, Nicolas, Castanet, Mireille, Polak, Michel,
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Volume:
28
Language:
english
Journal:
Journal of Pediatric Endocrinology and Metabolism
DOI:
10.1515/jpem-2014-0194
Date:
January, 2015
File:
PDF, 618 KB
english, 2015
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