A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy

CONCLUSIONS: LRS represents a more comprehensive and accurate diagnosis approach that is beneficial to early treatment and effective management of SMA.PMID:38158006 | DOI:10.1016/j.cca.2023.117743

Source: International Journal of Clinical Chemistry - December 29, 2023 Category: Chemistry Authors: Jinli Bai Yujin Qu Wenshen Huang Wanli Meng Jiahan Zhan Hong Wang Wenqi Hou Yuwei Jin Aiping Mao Fang Song Source Type: research