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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...
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| Udgivet i: | J Clin Endocrinol Metab |
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Endocrine Society
2017
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| Fag: | |
| Online adgang: | 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 |
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