期刊
NATURE GENETICS
卷 43, 期 8, 页码 738-740出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.884
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资金
- US National Institutes of Health (NIH) [NIH HL084086-01, NIH HL066277, HL091283, NIH T32 HL105321, NIH UL1RR024979, NIH P30DK57516]
- Canadian Institutes of Health Research [MOP-81208, MOP-84556]
- American Heart Association [AHA 09BG1A2250381]
Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet alpha-granules.
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