Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.

@article{Suzuki1997NovelPM,
  title={Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.},
  author={Kazuhiro Suzuki and Tokio Hayashi and Akito Yahagi and Jun Akiba and Kenichiro Tajima and Sunao Satoh and Hiroshi Tokai Sasaki},
  journal={British journal of haematology},
  year={1997},
  volume={99 4},
  pages={
          794-800
        }
}
  • Kazuhiro Suzuki, Tokio Hayashi, +4 authors Hiroshi Tokai Sasaki
  • Published in
    British journal of…
    1997
  • Medicine, Biology
  • Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. We examined a patient with BSS to find a molecular basis for the defect underlying this disease. The propositus was a 39-year-old Japanese female with life-long bleeding diathesis. Sequence analysis of the GPIX gene revealed a T-->C point mutation at nucleotide 1856 (EMBL, M80478), resulting in Phe55(TTT)-->Ser(TCT… CONTINUE READING

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