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Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo
The LMAN1–MCFD2 complex serves as a cargo receptor for efficient transport of factor V (FV) and FVIII from the endoplasmic reticulum (ER) to the Golgi. Genetic deficiency of LMAN1 or MCFD2 in humans results in the moderate bleeding disorder combined FV and FVIII deficiency, with a similar phenotype...
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| Publié dans: | Blood Adv |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society of Hematology
2018
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5942004/ https://ncbi.nlm.nih.gov/pubmed/29735583 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2018018317 |
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