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MCFD2 gene

Known as: multiple coagulation factor deficiency 2, F5F8D, LMAN1IP 
National Institutes of Health

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FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
[Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma].
Congenital combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive… 
2016
2016
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction
TO THE EDITOR: Combined factor V and VIII deficiency, a rare autosomal recessive coagulopathy, was first defined by Oeri et al… 
2012
2012
Unveiling the Unfolding Pathway of F5F8D Disorder-Associated D81H/V100D Mutant of MCFD2 via Multiple Molecular Dynamics Simulations
Abstract Combined factor deficiency (F5F8D) is a rare autosomal recessive disorder caused by mutations in the LMAN1 or MCFD2… 
2012
2012
Structural studies of the ERGIC-53/MCFD2 glycoprotein transport receptor complex
The secretory pathway defines and maintains the intracellular architecture of the eukaryotic cell. Proteins targeted to either… 
2011
2011
Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII
Summary.  Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive disorder… 
2010
2010
Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.
2010
2010
[Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1].
Combined deficiency of factor V and VIII (F5F8D) is a rare, autosomal recessive disorder caused by mutations of either lman1 or… 
2007
2007
Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India
Summary.  Combined FV and FVIII deficiency (F5F8D) is a rare (1:1.000.000) autosomal recessive disorder caused by a defect in the… 
2007
2007
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients.
Combined factor V and factor VIII deficiency (F5F8D) is an extremely rare worldwide congenital hemorrhagic disorder that is more… 
2003
2003
MCFD2, a second gene defective in combined factor V/factor VIII deficiency, encodes a novel ER protein that interacts with LMAN1 (ERGIC‐53) to form a cofactor‐specific sorting receptor
OC093 MCFD2, a second gene defective in combined factor V/factor VIII deficiency, encodes a novel ER protein that interacts with… 
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