High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

OBJECTIVE: Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients’ inclusion criteria and bioinformatics. The objective was to study the molecular basis of severe congenital hypothyroidism, using the...

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Detalles Bibliográficos
Autores principales: Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V., Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I., Tiulpakov, Anatoly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150524/
https://www.ncbi.nlm.nih.gov/pubmed/30240412
http://dx.doi.org/10.1371/journal.pone.0204323

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