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Relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex
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作者 李花 《China Medical Abstracts(Internal Medicine)》 2016年第3期130-,共1页
Objective To study the relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex(TSC).Methods The clinical data of76 patients with TSC diagnosed in Guangdong 999 Brain Hospi... Objective To study the relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex(TSC).Methods The clinical data of76 patients with TSC diagnosed in Guangdong 999 Brain Hospital were collected between May 2007 and 2014 and then TSC gene mutation analysis was performed.Genotype-phenotype analyses for all the patients were also carried out.Results Fifty of the 76(66%)patients 展开更多
关键词 TSC GENE relationship between gene mutation and clinical phenotype in patients with tuberous sclerosis complex
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