ロード中...
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect
CONTEXT: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. OBJECTIVES: Clinical and bone material phenotype description and osteoblast differentiation studies. DESIGN AND SETTING: Natural history study in pediatric research center...
保存先:
| 出版年: | J Clin Endocrinol Metab |
|---|---|
| 主要な著者: | , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2017
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5470761/ https://ncbi.nlm.nih.gov/pubmed/28323974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3766 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|