Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

We studied the defect responsible for Glanzmann thrombasthenia in a patient whose platelets expressed < 5% of the normal amount of GPIIb-IIIa. Genetic and biochemical evidence indicated that the patient's GPIIIa genes were normal. However, DNA analysis revealed the patient homozygous for a G...

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Détails bibliographiques
Auteurs principaux: Poncz, M, Rifat, S, Coller, B S, Newman, P J, Shattil, S J, Parrella, T, Fortina, P, Bennett, J S
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC293750/
https://ncbi.nlm.nih.gov/pubmed/8282784
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