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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients

✍ Scribed by Zhang, Huiwen; Wang, Yu; Lin, Na; Yang, Rui; Qiu, Wenjuan; Han, Lianshu; Ye, Jun; Gu, Xuefan

No coin nor oath required. For personal study only.

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