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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2011
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| Θέματα: | |
| Διαθέσιμο Online: | 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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