title: Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2.
authors: aDepartment of Haematology, Churchill Hospital bHaemophilia Genetics, Molecular Haematology, John Radcliffe Hospital cOxford Haemophilia and Thrombosis Centre, Churchill Hospital, Oxford, Oxfordshire, UK.
authors: Toby Andrew
authors: TA
authors: Eyre
authors: Patricia
authors: P
authors: Bignell
authors: David
authors: D
authors: Keeling
mesh_terms: D019943:Amino Acid Substitution; D001780:Blood Coagulation Tests; D002648:Child; D003062:Codon / Q000235:genetics*; D004844:Epistaxis / Q000209:etiology; D005091:Exons / Q000235:genetics; D005170:Factor X / Q000737:chemistry / Q000235:genetics*; D005171:Factor X Deficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011693:Purpura / Q000209:etiology; D017384:Sequence Deletion; D056725:von Willebrand Disease, Type 1 / Q000235:genetics
chemical_list: D003062:Codon; D005170:Factor X