Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference37 articles.
1. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia;Aalbers;Br. J. Haematol.,2013
2. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010
3. Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias;Agarwal;Br. J. Haematol.,2016
4. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth;Ambekar;Pediatr. Blood Cancer,2010
5. A global reference for human genetic variation;Auton;Nature,2015
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