SMPD1 gene variants in patients with β-Thalassemia major
These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC (p.38AL)) (rs3838786) variant may underlie these clinical findings in patients with β-thalassemia major. © 2023. The Author(s).
|Authors||Dursun FE, Özen F|
|Journal||Molecular biology reports|
|Publication Date||2023 Feb 1;|