Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Nbeal2"”.
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The role of Nbeal2 in the homeostasis and retention of granules in haematopoietic cells
… GPS is caused by biallelic mutations in the NBEAL2 gene, where the deficiency of platelet α-granules is attributed to a loss of function in the Nbeal2 protein. Thus, the study of Nbeal2 can provide insight into both the clinical manifestations of GPS and the essential processes that …
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Genetic and functional studies in inherited platelet disorders
… there are 69 diagnostic-grade genes for IPDs. NBEAL2, the gene in which biallelic pathogenic variants cause gray platelet syndrome (GPS), was discovered in 2011. The second and third parts of this thesis report on studies of the largest collection of patients with GPS and a cellular model of …