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Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

作者信息

Vlachos Adrianna, Dahl Niklas, Dianzani Irma, Lipton Jeffrey M

机构信息

Feinstein Institute for Medical Research, Hofstra North Shore-LIJ School of Medicine, Steven and Alexandra Cohen Children's Medical Center of New York, New York, NY, USA.

出版信息

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.34. Epub 2013 Mar 6.

Abstract
摘要

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本文引用的文献

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.
J Clin Invest. 2012 Jul;122(7):2439-43. doi: 10.1172/JCI63597. Epub 2012 Jun 18.
2
What's in a name?
J Clin Invest. 2012 Jul;122(7):2346-9. doi: 10.1172/JCI63989. Epub 2012 Jun 18.
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Ribosomal protein gene deletions in Diamond-Blackfan anemia.
Blood. 2011 Dec 22;118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.
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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383.
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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28.
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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.
10

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