Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome
Tóm tắt
Từ khóa
Tài liệu tham khảo
Eghbali M, 2016, Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: case report and review of the literature, Allergol Immunopathol, 44, 450, 10.1016/j.aller.2015.11.002
Malik MA, 2024, Wiskott‐Aldrich Syndrome
Thrasher AJ, 2000, The Wiskott–Aldrich syndrome, Clin Exp Allergy, 120, 2
Kolluri R, 1995, Identification of WASP mutations in patients with Wiskott‐Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus, Hum Mol Genet, 4, 1119, 10.1093/hmg/4.7.1119
Lee WI, 2007, Clinical aspects and molecular analysis of Chinese patients with Wiskott‐Aldrich syndrome in Taiwan, Int Arch Allergy Immunol, 145, 15, 10.1159/000107462
Massaad MJ, 2020, Encyclopedia of medical immunology: immunodeficiency diseases, 705, 10.1007/978-1-4614-8678-7_163
Kiet NC, 2019, Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma, Mol Vis, 25, 215
Hamby SE, 2011, A meta‐analysis of single base‐pair substitutions in translational termination codons (‘nonstop’ mutations) that cause human inherited disease, Hum Genomics, 5, 1, 10.1186/1479-7364-5-4-241