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Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier

Jian-hui Zhang, Ai-ping Lin,Li Zhang,Dan-dan Ruan,Mei-zhu Gao,Qian Chen,Hong-ping Yu,Li-sheng Liao,Xin-fu Lin,Zhu-ting Fang,Fan Lin,Shi-yun Lu,Jie-wei Luo, Xiao-ling Zheng,Meng-shi Chen

Digestive Diseases and Sciences（2025）

Cited 1|Views12
Key words
Cholesteryl ester storage disease,LIPA,Dominant mutation,New genetic modality
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