Associated Papers
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1
Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.
Everett LA et al.
Blood Advances, 2020
Combined deficiency of coagulation factors V and VIII: an update.
Zheng C et al.
Seminars in Thrombosis and Hemostasis, 2013
Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.
Zheng C et al.
Blood, 2010
Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.
Wigren E et al.
Febs Letters, 2010
A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII.
Yamada T et al.
American Journal of Hematology, 2009
Response to the DDAVP test in a patient with combined deficiency of factor V and factor VIII.
Guglielmone H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B et al.
Blood, 2008
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang B et al.
Blood, 2006
[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].
Ueno H et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991
[Case report of congenital deficiency of factor V and factor VIII].
Vujaklija-Stipanović K et al.
Bilten Za Hematologiju I Transfuziju, 1979
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