title: Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.
abstract: DNA probes derived from the cloned factor VIII gene can be used to detect mutations in the factor VIII gene of hemophiliacs. DNA hybridization analysis led to the identification of two contrasting point mutations in the same codon. In a severe hemophiliac with no detectable factor VIII activity, the normal arginine codon (number 2307) is converted to a stop codon, while in a mild hemophiliac with 10 percent of normal activity, this same codon is converted to glutamine.
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004262:DNA Restriction Enzymes; D005169:Factor VIII / Q000235:genetics* / Q000378:metabolism; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008657:Metabolic Clearance Rate; D009154:Mutation
chemical_list: D005169:Factor VIII; D004262:DNA Restriction Enzymes