title: Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
abstract: We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide 979C-->T corresponding to Arg326Stop; and nucleotide 2075G-->A corresponding to Trp691 Stop), one novel deletion of a single nucleotide (nucleotide 708G or 709G), one previously reported missense mutation (nucleotide 888C-->G corresponding to Ser295Arg), and a previously reported splice site mutation (nucleotide 319G-->T at the last position of exon 3). The phenotypic consequences of these mutations are discussed.
authors.forename: Rashida
authors.initials: R
authors.lastname: Anwar
authors.forename: Louise
authors.initials: L
authors.lastname: Gallivan
authors.forename: Michael
authors.initials: M
authors.lastname: Richards
authors.forename: Kate
authors.initials: K
authors.lastname: Khair
authors.forename: Michael
authors.initials: M
authors.lastname: Wright
authors.forename: Adrian
authors.initials: A
authors.lastname: Minford
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D022821:RNA Splice Sites / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D022821:RNA Splice Sites; D005176:Factor XIII