期刊
NATURE GENETICS
卷 43, 期 8, 页码 732-734出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.883
关键词
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资金
- National Human Genome Research Institute
- NIH Clinical Center
- Israeli Ministry of Justice [84/2004, 85/2004, 9090-25/2007]
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack alpha-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS 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.
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