dc.contributor.author | Gunay-Aygun, Meral | |
dc.contributor.author | Falik-Zaccai, Tzipora C | |
dc.contributor.author | Vilboux, Thierry | |
dc.contributor.author | Zivony-Elboum, Yifat | |
dc.contributor.author | Gumruk, Fatma | |
dc.contributor.author | Cetin, Mualla | |
dc.contributor.author | Khayat, Morad | |
dc.contributor.author | Boerkoel, Cornelius F | |
dc.contributor.author | Kfir, Nehama | |
dc.contributor.author | Huang, Yan | |
dc.contributor.author | Maynard, Dawn | |
dc.contributor.author | Dorward, Heidi | |
dc.contributor.author | Berger, Katherine | |
dc.contributor.author | Kleta, Robert | |
dc.contributor.author | Anikster, Yair | |
dc.contributor.author | Arat, Mutlu | |
dc.contributor.author | Freiberg, Andrew S | |
dc.contributor.author | Kehrel, Beate E | |
dc.contributor.author | Jurk, Kerstin | |
dc.contributor.author | Cruz, Pedro | |
dc.contributor.author | Mullikin, Jim C | |
dc.contributor.author | White, James G | |
dc.contributor.author | Huizing, Marjan | |
dc.contributor.author | Gahl, William A | |
dc.date.accessioned | 2019-12-10T10:42:00Z | |
dc.date.available | 2019-12-10T10:42:00Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | https://doi.org/10.1038/ng.883 | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154019/ | |
dc.identifier.uri | http://hdl.handle.net/11655/14210 | |
dc.description.abstract | 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 combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets. | |
dc.relation.isversionof | 10.1038/ng.883 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Nature genetics | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 43 | |
dc.identifier.issue | 8 | |
dc.identifier.startpage | 732 | |
dc.identifier.endpage | 734 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |