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Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next‐generation sequencing technolo...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5823677/ https://ncbi.nlm.nih.gov/pubmed/29150909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.331 |
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