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SMN1 Sanger

Jin He, Qi-Jie Zhang, Qi-Fang Lin, Ya-Fang Chen, Xiao-Zhen Lin, Min-Ting Lin, Shen-Xing Murong, Ning Wang, Wan-Jin Chen
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. Additionally, the phenotype is modified by several genes nearby SMN1 in the 5q13 region. In this study, we analyzed mutations in SMN1 and quantified the modifying genes, including SMN2, NAIP, GTF2H2, and H4F5 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), multiplex ligation-dependent probe amplification (MLPA), TA cloning, allele-specific long-range PCR, and Sanger sequencing in 157 SMA patients...
April 15, 2013: Gene
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