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• W2312952014 abstract "Purpose The genetic basis of Bernard-Soulier syndrome (BSS) was studied to clarify a relationship between severe clinical manifestations and gene abnormality. Patient and Methods A patient with BSS had a severe bleeding tendency that was sometimes life threatening. Flow cytometric analysis of the patient's and normal control platelets was performed to study which glycoprotein (GP) was impaired in glycoprotein Ib/V/IX complex. The genes encoding GPIbα from the patient's and control genomic DNA were amplified and directly sequenced. Results Flow cytometric analysis revealed a defect of GPIbα on the surface of the patient's platelets. A homozygous single base pair deletion was identified in seven repeats of adenine at positions 1932 to 1938 in the GPIbα gene. This mutation, which has been previously reported, results in a frameshift and predicts a premature stop codon leading to a truncated peptide that cannot fix on the platelet membrane. Conclusion This patient's severe clinical phenotype would be explained by this mutation in the GPIbα gene." @default.
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• W2312952014 date "1998-05-01" @default.
• W2312952014 modified "2023-10-18" @default.
• W2312952014 title "Severe Bleeding Tendency in a Patient With Bernard-Soulier Syndrome Associated With a Homozygous Single Base Pair Deletion in the Gene Coding for the Human Platelet Glycoprotein Ibα" @default.
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• W2312952014 doi "https://doi.org/10.1097/00043426-199805000-00011" @default.
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