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...

詳細記述

保存先:
書誌詳細
出版年:J Clin Endocrinol Metab
主要な著者: Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang
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!