Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCEgenes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/1479-7364-6-8.pdf
Reference10 articles.
1. Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM: On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat. 2012, 32: 1075-1099.
2. Tilley L, Rodrigues MJ, Malde R, Marais I: Two novel RhD variants caused by triplet deletions in the RHD gene. Transfus Med. 2007, 17: 32-
3. Döscher A, Vogt C, Bittner R, Gerdes I, Petershofen EK, Wagner FF: RHCE alleles detected after weak and/or discrepant results in automated Rh blood grouping of blood donors in Northern Germany. Transfusion. 2009, 49: 1803-1811. 10.1111/j.1537-2995.2009.02221.x.
4. Pereira JC, Rodrigues MJ, Tilley L, Poole J, Chabert T, Ribeiro ML: RhD variant caused by an in-frame triplet duplication in the RHD gene. Transfusion. 2011, 51: 570-573. 10.1111/j.1537-2995.2010.02856.x.
5. Kondrashov AS, Rogozin IB: Context of deletions and insertions in human coding sequences. Hum Mutat. 2004, 23: 177-185. 10.1002/humu.10312.
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