Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Abstract Background Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA patients. The phenotype and genetic basis of Chinese FA patients have no...

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Bibliographic Details
Main Authors: Daijing Nie, Jing Zhang, Fang Wang, Wei Zhang, Lili Liu, Xue Chen, Yang Zhang, Panxiang Cao, Min Xiong, Tong Wang, Ping Wu, Xiaoli Ma, Wenjun Tian, Mangju Wang, Kylan N. Chen, Hongxing Liu
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genetics
Subjects:
Fanconi anemia
Bone marrow failure
Aldehyde dehydrogenase
Hematopoietic stem cell transplantation
Online Access:http://link.springer.com/article/10.1186/s12881-020-01057-3

Internet

http://link.springer.com/article/10.1186/s12881-020-01057-3

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