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[Study of NAIP gene in spinal muscular atrophy]
1The Second Hospital, China Medical University, Shenyang, 110003, P. R. China. cmu2hosp@iris.cmu.edu.cn
Objective:
Investigating the correlation between the genotype and spinal muscular atrophy(SMA) clinical phenotype.
Methods:
Neuronal apoptosis inhibitory protein(NAIP) gene analysis was performed by PCR amplification of exon 5 in 13 unrelated SMA patients with deletions of SMN gene.
Results:
Two Type-I patients(2 M5, 40%) lacked the NAIP exon 5.
Conclusion:
The results suggest a possible correlation between NAIP gene deletion and the disease severity of SMA.
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