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Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX
Aberrant forms of endoplasmic reticulum (ER)-resident chaperones are implicated in loss of protein quality control in rare diseases. Here we report a novel mutation (p.Asp233Asn) in the ER retention signal of MESD by whole exome sequencing of an individual diagnosed with osteogenesis imperfecta (OI)...
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| 出版年: | Matrix Biol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2023
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7615836/ https://ncbi.nlm.nih.gov/pubmed/36526215 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2022.12.001 |
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