Molecular defects identified by whole exome sequencing in a child with Fanconi anemia-Reference-Cited by-同舟云学术

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Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

Published:2013-11 Issue:2 Volume:530 Page:295-300
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Zheng Zhaojing,Geng Juan,Yao Ru-en,Li Caihua,Ying Daming,Shen Yongnian,Ying Lei,Yu Yongguo,Fu Qihua

Funder

Shanghai Municipal Health Bureau “New 100 Talents Program”

Shanghai Science & Technology Commission Major Project

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference27 articles.

1. Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants;Adachi;Hum. Mol. Genet.,2002

2. Genetic subtyping of Fanconi anemia by comprehensive mutation screening;Ameziane;Hum. Mutat.,2008

3. Diagnosis of Fanconi anemia: mutation analysis by next-generation sequencing;Ameziane;Anemia,2012

4. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat. Rev. Genet.,2011

5. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations;Bouchlaka;J. Hum. Genet.,2003

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole exome sequencing identifies the novel putative gene variants related with type 2 diabetes in Mizo population, northeast India;Gene;2021-02

2. Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes;Haematologica;2020-02-13

3. FANCA and contribution of studies from Asian populations to the understanding of fanca mediated Fanconi anemia;Genetika;2019

4. Functional analysis of Fanconi anemia mutations in China;Experimental Hematology;2018-10

5. Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family;Journal of Pediatric Hematology/Oncology;2018-07

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