Concepedia

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gümrük, Mualla Çetin, Morad Khayat, Cornelius F. Boerkoel, Nehama Cohen Kfir, Yan Huang,

Nature Genetics · 2011 · 259 citations · 11 references

DOIFull text

Open access

Concepts

References

11

Proteomic analysis of platelet α‐granules using mass spectrometry

Dawn Maynard, Harry F.G. Heijnen, M K Horne et al. · Journal of Thrombosis and Haemostasis · 2007 · 328 citations · Full text

, , +15

Gray platelet syndrome

Giovanni Raccuglia · The American Journal of Medicine · 1971 · 284 citations

Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha- granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor

HJ Weiss, Witte Ld, KL Kaplan et al. · Blood · 1979 · 235 citations · Full text

, , +16

Ultrastructural studies of the gray platelet syndrome.

White Jg · PubMed · 1979 · 167 citations · Full text

, , +14

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük et al. · Blood · 2010 · 156 citations · Full text

, , +13