Detection and characterization of SMN1 deletions in type IV spinal muscular atrophy using long-read whole-genome sequencing

Clinica Chimica Acta 2026

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Authors: Zeyan Zhong, Jieni Mai, Dina Chen, Yangzong Lamu, Wenjuan Zhou, Rui Mao, Xiaoxuan Zeng, Ziyun Zhang, Junyu Deng, Xuanwei Wu, Jianhong Chen, Liang Li
DOI: 10.1016/j.cca.2026.121075
Cited by: 1
References: 31

Fields of Study & Subjects

Neurogenetic and Muscular Disorders Research Cardiomyopathy and Myosin Studies RNA and protein synthesis mechanisms

Publication details

Journal / source
Clinica Chimica Acta
Publisher
Elsevier BV
Volume
590
Pages
121075–121075
Publication date
12 May 2026
Language
EN