Publication Date:
2016-09-01
Description:
Key Points New function-disrupting mutations in CalDAG-GEFI, p.S381F and p.R113X, were identified in 2 unrelated families of distinct ethnic origin. Homozygous carriers of these mutations displayed relevant bleeding diathesis and moderate impairment and/or delay in platelet aggregation.
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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