Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Metab
Main Authors: Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5346474/
https://ncbi.nlm.nih.gov/pubmed/28041820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2016.12.006
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