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

BACKGROUND: Fanconi anemia (FA) is a rare inherited genetic syndrome with highly variable clinical manifestations. Fifteen genetic subtypes of FA have been identified. Traditional complementation tests for grouping studies have been used generally in FA patients and in stepwise methods to identify t...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038598/
https://www.ncbi.nlm.nih.gov/pubmed/24885126
http://dx.doi.org/10.1186/1755-8794-7-24

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