title: New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII.
abstract: The amplification of factor XIII A subunit gene exons and heteroduplex analysis has been used to identify two new mutations that cause severe factor XIII deficiency. One mutation in a family of French origin results from a 4 bp deletion and leads to a premature termination of translation. The other mutation occurred in a Turkish family and results from a C-->T transition that inserts a premature translation stop signal at codon 400. Both mutations alter restriction enzyme sites and can be readily detected in amplified exon DNA for genetic counselling or prenatal diagnosis. The new mutations reflect the extensive molecular heterogeneity of factor XIII deficiency.
authors.affiliation: Molecular Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Kangsadalampai
authors.forename: A
authors.initials: A
authors.lastname: Farges-Berth
authors.forename: S H
authors.initials: SH
authors.lastname: Caglayan
authors.forename: P G
authors.initials: PG
authors.lastname: Board
mesh_terms: D002675:Child, Preschool; D005006:Ethnicity / Q000235:genetics*; D005091:Exons; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005602:France; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010443:Peptide Chain Termination, Translational; D010446:Peptide Fragments / Q000235:genetics*; D017354:Point Mutation; D013997:Time Factors; D014421:Turkey
chemical_list: D010446:Peptide Fragments; D005176:Factor XIII