Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients-Reference-Cited by-同舟云学术

Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients

Published:2014-05-15 Issue:1 Volume:7 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Chang Lixian,Yuan Weiping,Zeng Huimin,Zhou Quanquan,Wei Wei,Zhou Jianfeng,Li Miaomiao,Wang Xiaomin,Xu Mingjiang,Yang Fengchun,Yang Yungui,Cheng Tao,Zhu Xiaofan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1755-8794-7-24.pdf

Reference27 articles.

1. Alan D, D’Andrea AD: The Fanconi anemia and breast cancer susceptibility pathways. N Engl J Med. 2010, 362: 1909-1919. 10.1056/NEJMra0809889.

2. Tolar J, Becker PS, Clapp DW, Hanenberg H, de Heredia CD, Kiem HP, Navarro S, Qasba P, Rio P, Schmidt M, Sevilla J, Verhoeyen E, Thrasher AJ, Bueren J: Gene therapy for Fanconi Anemia: one step closer to the clinic. Hum Gene Ther. 2012, 23: 141-144. 10.1089/hum.2011.237.

3. Rosendor J, Bernstein R: Fanconi’s anemia–chromosome breakage studies in homozygotes and heterozygotes. Cancer Genet Cytoqenet. 1988, 33: 175-183. 10.1016/0165-4608(88)90027-1.

4. Hanenberg H, Batish SD, Pollok KE, Vieten L, Leurs C, Cooper RJ, Gottsche K, Haneline L, Clapp DW, Lobitz S, Williams DA, Auerbach AD: Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Exp Hematol. 2002, 30: 410-420. 10.1016/S0301-472X(02)00782-8.

5. De Winter JP, Joenje H: The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009, 668: 11-19. 10.1016/j.mrfmmm.2008.11.004.

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