Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient-Reference-Cited by-同舟云学术

Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient

Published:2019-06-26 Issue:9 Volume:64 Page:899-909
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nie Daijing^ORCID,Cao Panxiang,Wang Fang,Zhang Jing,Liu Mingyue,Zhang Wei,Liu Lili,Zhao Huizheng,Teng Wen,Tian Wenjun,Chen Xue,Zhang Yang,Nan Hua,Wei Zhijie,Wang Tong,Liu Hongxing

Funder

Shandong Nature Science Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0629-x.pdf

Reference23 articles.

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2. Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, et al. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019. https://doi.org/10.3324/haematol.2018.207241 .

3. Castella M, Pujol R, Callen E, Trujillo JP, Casado JA, Gille H, et al. Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood. 2011;117:3759–69.

4. Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet. 1999;65:1330–41.

5. Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Hum Mutat. 2004;24:481–90.

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