On pages 364 and 365 of the 14 January 2010 issue, the causative nucleotide variation is incorrectly described as a “c.910G > C transversion.” The correct description of this variation is “c.910G > A transition.” In “Methods,” the last sentence under the heading “Analysis of TBXA2R” reads, “The presence of the TBXA2R c.910G > C transversion was confirmed by restriction analysis using AvaII.” The sentence should have read, “The presence of the TBXA2R c.910G > A transition was confirmed by restriction analysis using AvaII.” In “Results,” the first and second sentences under the heading “Identification of the TBXA2R D304N mutation” read, “Subjects P1 and P2, who showed the same abnormal platelet aggregation and secretion responses, were heterozygous for a c.910G > C transversion in TBXA2R that is predictive of an aspartate to asparagine substitution at position 304 in transmembrane domain 7 of the TxA2R (p.D304N). The TBXA2R c.910G > C transversion was not identified as polymorphic in either the National Center for Biotechnology Information (http://www.ncbi.nim.nih.gov/) or Ensemble (http://www.ensembl.org/index.html) databases.” The sentences should have read, “Subjects P1 and P2, who showed the same abnormal platelet aggregation and secretion responses, were heterozygous for a c.910G > A transition in TBXA2R that is predictive of an aspartate to asparagine substitution at position 304 in transmembrane domain 7 of the TBXA2R (p.D304N). The TBXA2R c.910G > A transition was not identified as polymorphic in either the National Center for Biotechnology Information (http://www.ncbi.nim.nih.gov/) or Ensemble (http://www.ensembl.org/index.html) databases.” The study results or conclusion are completely unaffected by this simple nomenclature error.
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April 26, 2012
Mumford AD, Dawood BB, Daly ME, et al. A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood. 2010;115(2):363–369.
Blood (2012) 119 (17): 4092.
Citation
Mumford AD, Dawood BB, Daly ME, et al. A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood. 2010;115(2):363–369.. Blood 2012; 119 (17): 4092. doi: https://doi.org/10.1182/blood-2012-01-408070
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April 26 2012
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