title: Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene.
authors.forename: Edmond S K
authors.initials: ES
authors.lastname: Ma
authors.forename: Chris L P
authors.initials: CL
authors.lastname: Wong
authors.forename: H Y
authors.initials: HY
authors.lastname: Lam
authors.forename: Candy L N
authors.initials: CL
authors.lastname: Wang
authors.forename: S Y
authors.initials: SY
authors.lastname: Ma
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins