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Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules
(2011)
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 ...
The Frequency of A91V in the Perforin Gene and the Effect of Tumor Necrosis Factor-Alpha Promoter Polymorphism on Acquired Hemophagocytic Lympholmstiocytosis
(Galenos Yayıncılık, 2011)
Objective: Numerous acquired etiological factors, such as infections, malignancies, and collagen tissue disorders, are involved in the development of acquired hemophagocytic lymphohistiocytosis (AHLH). Not everyone with ...