Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese.

@article{Zeng2008EvaluationOA,
  title={Evaluation of an in-house protocol for prenatal molecular diagnosis of SMA in Chinese.},
  author={Jian Zeng and F. Lan and Xiao-jun Deng and Long-feng Ke and Xiang-dong Tu and Liang-hu Huang and De-zhu Zheng and Zhong-yong Zhu},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2008},
  volume={398 1-2},
  pages={
          78-81
        }
}
BACKGROUND Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn of the spinal cord, leading to symmetric muscle weakness and atrophy. About 95% of SMA patients have homozygous loss of SMN1 which can be detected by conventional PCR-RFLP testing. However, the method cannot distinguish heterozygous healthy carriers. A quantitative method named multiple ligation-dependent probe amplification (MLPA) was introduced in… Expand
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