Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
Author:
Funder
McLaughlin Centre Accelerator Grants in Genomic Medicine
Publisher
Springer Science and Business Media LLC
Subject
Oncology,Cancer Research,Hematology
Link
https://www.nature.com/articles/s41375-022-01610-4.pdf
Reference15 articles.
1. Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, et al. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013;45:1226–31.
2. Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47:535–8.
3. Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stay-Pedersen A, Gelfand EW, et al. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. N. Engl J Med. 2016;374:1032–43.
4. Pouliot GP, Degar J, Hinze L, Kochupurakkal B, Vo CD, Burns MA, et al. Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia. PLoS ONE. 2019;14:e0221288.
5. Strevens MJ, Lilleyman JS, Williams RB. Shwachman’s syndrome and acute lymphoblastic leukaemia. Br Med J. 1978;2:18.
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