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...

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Vydáno v:Blood Adv
Hlavní autoři: Everett, Lesley A., Khoriaty, Rami N., Zhang, Bin, Ginsburg, David
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2020
Témata:
Thrombosis and Hemostasis
On-line přístup: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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