Genetic and clinical analysis of

• Tác giả: Qirui Jiang, Chunyu Li, Junyu Lin, Huifang Shang, Yushan Tan, Shichan Wang, Qianqian Wei, Yi Xiao, Tianmi Yang, Lingyu Zhang
• Ngôn ngữ: eng
• Ký hiệu phân loại: 373.236 Lower level
• Thông tin xuất bản: England : Journal of medical genetics , 2025
• Bộ sưu tập: NCBI
• ID: 720896

Tóm tắt

BACKGROUND: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene ( RESULTS: A total of 33 unrelated patients with ALS with 24 rare CONCLUSION: Our study contributed to a broader understanding of the genotype and phenotype spectrum of patients with ALS carrying