【摘 要】
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Introduction Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder,which was named combined FV and FVIII deficiency (F5F8D).Encoded proteins by MCFD2 and LMAN1 genes whi
【机 构】
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Department of Hematology,Anhui Medical University Affiliated Anhui Provincial Hospital,Hefei,Anhui 2
【出 处】
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The 35th World Congress of the International Society of Hema
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Introduction Mutations in LMAN1 or MCFD2 genes cause a rare autosomal recessive bleeding disorder,which was named combined FV and FVIII deficiency (F5F8D).Encoded proteins by MCFD2 and LMAN1 genes which may form a Ca2+-dependent cargo receptor complex have been confirmed to participate in the transport of FV and FVIII from the endoplasmic reticulum (ER) to the Golgi.
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