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 G818-->A...

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में प्रकाशित:	J Clin Invest
मुख्य लेखकों:	Poncz, M, Rifat, S, Coller, B S, Newman, P J, Shattil, S J, Parrella, T, Fortina, P, Bennett, J S
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	American Society for Clinical Investigation 1994
विषय:	Research Article
ऑनलाइन पहुंच:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC293750/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8282784/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116942
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