【摘 要】
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Objective: To evaluated survival motor neuron 2 (SMN2) and neuronal apoptosis inhibitory protein (NAIP) gene copy distribution and the association of copy number with survival in 232Chinese spinal mus
【机 构】
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Department of Medical Genetics,Capital Institute of Pediatrics,Beijing,P.R.China
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
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Objective: To evaluated survival motor neuron 2 (SMN2) and neuronal apoptosis inhibitory protein (NAIP) gene copy distribution and the association of copy number with survival in 232Chinese spinal muscular atrophy (SMA) patients.Method: A multiplexed ligation-dependent probe amplification (MLPA) assay was performed to quantify the copy numbers of SMN2 and NAIP in patients.The distribution of gene copies, age at onset, outcome, and survival status of patients were then compared among different copy number groups.The distribution and survival modifier effect of combined SMN1-SMN2-NAIP genotypes were also analyzed.
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