SMPD1 gene variants in patients with β-Thalassemia major
Summary
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[4] (p.38AL[4])) (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 Apr;50(4):3355-3363 |
| PubMed | 36725747 |
| PubMed Central | PMC10042979 |
| DOI | 10.1007/s11033-023-08275-x |