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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Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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