載入...
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
BACKGROUND: Mutations in the thyroid hormone (TH) transporter MCT8 have been identified as the cause for Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and altered TH serum levels. Here we report a novel MCT8 mutation identified in 4 generations of one family,...
Na minha lista:
| 發表在: | PLoS One |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Public Library of Science
2015
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4591285/ https://ncbi.nlm.nih.gov/pubmed/26426690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0139343 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|