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A 13-bp deletion in α(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder caused by lack or dysfunction of α(IIb)β(3) in platelets. GT is relatively frequent in highly inbred populations. We previously identified a 13-bp deletion in the α(IIb) gene that causes in-frame deletion of six amino acid...

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Autori principali: ROSENBERG, N., HAUSCHNER, H., PERETZ, H., MOR-COHEN, R., LANDAU, M., SHENKMAN, B., KENET, G., COLLER, B. S., AWIDI, A. A., SELIGSOHN, U.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1557653/
https://ncbi.nlm.nih.gov/pubmed/16359514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1538-7836.2005.01618.x
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