NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause GPS. We demonstrated that human megakaryocytes and platelets express a unique c...

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Auteurs principaux: Gunay-Aygun, Meral, Falik-Zaccai, Tzipora C, Vilboux, Thierry, Zivony-Elboum, Yifat, Gumruk, Fatma, Cetin, Mualla, Khayat, Morad, Boerkoel, Cornelius F, Kfir, Nehama, Huang, Yan, Maynard, Dawn, Dorward, Heidi, Berger, Katherine, Kleta, Robert, Anikster, Yair, Arat, Mutlu, Freiberg, Andrew S, Kehrel, Beate E, Jurk, Kerstin, Cruz, Pedro, Mullikin, Jim C, White, James G, Huizing, Marjan, Gahl, William A
Format: Artigo
Langue:Inglês
Publié: 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3154019/
https://ncbi.nlm.nih.gov/pubmed/21765412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.883
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