[Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].

@article{Zeng2009MutationAO,
  title={[Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].},
  author={Jian Zeng and Yan-hong Lin and Ai-zhen Yan and Mei-ying Cai and Long-feng Ke and F. Lan},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2009},
  volume={26 2},
  pages={
          139-43
        }
}
  • Jian Zeng, Yan-hong Lin, +3 authors F. Lan
  • Published 2009
  • Biology, Medicine
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
OBJECTIVE To perform mutation analysis and describe the genotype of the SMN gene in a patient with spinal muscular atrophy (SMA) and his family. METHODS Deletion analysis of the SMN1 exon 7 by conventional PCR-restriction fragment length polymorphism (RFLP) and allele-specific PCR, and gene dosage of SMN1 and SMN2 by multiplex ligation-dependent probe amplification (MLPA) were performed for the patient and his parents; reverse transcriptase (RT)-PCR and sequencing were performed for the… Expand