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Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression
Combined deficiency of coagulation factors V and VIII (F5F8D) is an autosomal recessive bleeding disorder caused by loss-of-function mutations in either LMAN1 or MCFD2. The latter genes encode 2 components of a mammalian cargo receptor that facilitates secretion of coagulation factor V (FV) and fact...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Blood Adv |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society of Hematology
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7686883/ https://ncbi.nlm.nih.gov/pubmed/33196840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020002523 |
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