Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene.
Ma
Edmond S K
ES
Wong
Chris L P
CL
Lam
H Y
HY
Wang
Candy L N
CL
Ma
S Y
SY
D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense; D005166:Factor V Deficiency / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree
D018389:Codon, Nonsense; C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins