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Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism

BACKGROUND: Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a...

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Detaylı Bibliyografya
Yayımlandı:J Pediatr Endocrinol Metab
Asıl Yazarlar: Roberts, Stephanie A., Moon, Jennifer E., Dauber, Andrew, Smith, Jessica R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5856010/
https://ncbi.nlm.nih.gov/pubmed/28195550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/jpem-2016-0185
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