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Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene

Lookup NU author(s): Dr Michael Wright

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Abstract

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.

Publication metadata

Author(s): Anwar R, Gallivan L, Richards M, Khair K, Wright M, Minford A

Publication type: Article

Publication status: Published

Journal: Haematologica

Year: 2005

Volume: 90

Issue: 12

Pages: 1718-1720

ISSN (print): 0390-6078

ISSN (electronic): 1592-8721

Publisher: Fondazione Ferrata Storti

PubMed id: 16330458

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