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Rivera, Candido E.; Villagra, Jose; Riordan, Michael; Williams, Sybil; Lindstrom, Katarina J.; Rick, Margaret E.

Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard–Soulier syndrome

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  • Media type: E-Article
  • Title: Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard–Soulier syndrome
  • Contributor: Rivera, Candido E.; Villagra, Jose; Riordan, Michael; Williams, Sybil; Lindstrom, Katarina J.; Rick, Margaret E.
  • Published: Wiley, 2001
  • Published in: British Journal of Haematology, 112 (2001) 1, Seite 105-108
  • Language: English
  • DOI: 10.1046/j.1365-2141.2001.02529.x
  • ISSN: 0007-1048; 1365-2141
  • Keywords: Hematology
  • Origination:
  • University thesis:
  • Footnote:
  • Description: <jats:p>We describe a new mutation in glycoprotein IX (GPIX) in a patient with Bernard–Soulier syndrome (BSS). Sequencing of GPIX revealed a homozygous (T→C) transition at nucleotide 1717 (GenBank/HUMGPIX/M80478), resulting in a Cys<jats:sup>8</jats:sup> (TGT)→Arg (CGT) replacement in the mature peptide. DNA restriction enzyme analysis using <jats:italic>Bsa</jats:italic>AI revealed that the patient was homozygous and that his parents were heterozygous for the defect. This mutation disrupts a putative disulphide bond between the Cys<jats:sup>8</jats:sup> and Cys<jats:sup>12</jats:sup> that would alter the secondary structure of GPIX and which probably accounts for the absence of the GPIb/IX/V complex from the platelet surface in this patient.</jats:p>
  • Access State: Open Access