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Study on the clinical characteristics and genetic mechanisms of mucolipidosis
Ⅲα/β
caused by a novel mutation in the
GNPTAB
gene
Li WANG,Congcong SHI,Xueqin YAN,Jiayan TANG,Sitao LI,Hu HAO,Xin. XIAO
The Journal of Practical Medicine . 2024, (
24
): 3575 -3581 . DOI: 10.3969/j.issn.1006-5725.2024.24.022