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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Bibliografische gegevens
Gepubliceerd in:PLoS One
Hoofdauteurs: Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V., Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I., Tiulpakov, Anatoly
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2018
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6150524/
https://ncbi.nlm.nih.gov/pubmed/30240412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0204323
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