Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.
Abdallah
Hejer Elmahmoudi
HE
Gouider
Emna
E
Stambouli
Nejla
N
Ben Amor
Mohamed
M
Jlizi
Asma
A
Belhedi
Nejla
N
Sassi
Rim
R
Khodjetelkhil
Houssein
H
Meddeb
Balkis
B
Hafsia
Raouf
R
Hamza
Adel
A
Elgaaied
Amel Benammar
AB
D025861:Blood Coagulation Disorders, Inherited / Q000235:genetics*; D002675:Child, Preschool; D005165:Factor V / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics; D005169:Factor VIII / Q000378:metabolism; D006801:Humans; D008297:Male; D056004:Molecular Dynamics Simulation; D009154:Mutation; D019906:Nuclear Magnetic Resonance, Biomolecular; D011487:Protein Conformation; D033921:Vesicular Transport Proteins / Q000737:chemistry* / Q000235:genetics*
C475146:MCFD2 protein, human; D033921:Vesicular Transport Proteins; D005165:Factor V; D005169:Factor VIII