Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.
Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London.
Laura C
LC
Collopy
Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London.
Amanda J
AJ
Walne
Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London t.vulliamy@qmul.ac.uk.
Tom J
TJ
Vulliamy
Centre for Paediatrics, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London Barts Health NHS Trust, London, UK.
Inderjeet S
IS
Dokal
D000741:Anemia, Aplastic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D045522:Recombinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
D045522:Recombinases; C542319:SLX4 protein, human
SLX4 variants; aplastic anemia; bone marrow failure genes; targeted resequencing