【摘 要】
：
Late infantile Neuronal Ceroid Lipofuscinosis (NCL-2) is a severe debilitating autosomal recessive disease caused by mutations in the TPP1 gene.There is no cure and treatments are largely ineffective,
【机 构】
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The State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, First A
【出 处】
：
中华医学会第七次全国生殖医学学术会议
论文部分内容阅读
Late infantile Neuronal Ceroid Lipofuscinosis (NCL-2) is a severe debilitating autosomal recessive disease caused by mutations in the TPP1 gene.There is no cure and treatments are largely ineffective, resulting in earlychildhood death.
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