Pleiotropic Effects of Different Exonic Nucleotide Changes at the Same Position Contributing to Hemophilia B Phenotypic Variation

CONCLUSION: Overall, albeit a multi-tools bioinformatics approach suggested the molecular effects of multiple HB variants, the deep investigation of molecular mechanisms revealed insights into the HB phenotype-genotype relationship, enabling accurate classification of HB variants. Importantly, knowledge of molecular mechanisms allowed the development of tailored RNA therapeutics, which can also be translated to other genetic diseases.PMID:38184202 | DOI:10.1016/j.jtha.2023.12.031

Source: Thrombosis and Haemostasis - January 6, 2024 Category: Hematology Authors: Huayang Zhang Min Xin Liya Lin Changming Chen Dario Balestra Qiulan Ding Source Type: research