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One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

Ob­jec­ti­ve: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and mutations in the TPO gene have been reported to cause CH. Our aim in this study was to determine the genetic basis of CH in two affected individuals coming from a consanguineous family. Methods: Since CH...

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書誌詳細
出版年:J Clin Res Pediatr Endocrinol
主要な著者: Cangül, Hakan, Doğan, Murat, Sağlam, Yaman, Kendall, Michaela, Boelaert, Kristien, G Barrett, Timothy, R Maher, Eamonn
フォーマット: Artigo
言語:Inglês
出版事項: Galenos Publishing 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4293646/
https://ncbi.nlm.nih.gov/pubmed/25241611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.1404
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