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Lookup NU author(s): Dr Michael Wright
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We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide 979G→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 888G→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.
Author(s): Anwar R, Gallivan L, Richards M, Khair K, Wright M, Minford A
Publication type: Article
Publication status: Published
ISSN (print): 0390-6078
ISSN (electronic): 1592-8721
Publisher: Fondazione Ferrata Storti
PubMed id: 16330458