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- [1] Molecular Characterization and Copy Number Analysis of SMN1 and SMN2 in Pakistani Patients with Spinal Muscular Atrophy (SMA) JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (05): : S10 - S10
- [3] SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype Neurological Sciences, 2020, 41 : 2575 - 2584
- [5] Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients BRAIN & DEVELOPMENT, 2014, 36 (10): : 914 - 920