A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
作者信息
Jia Weimin, Luo Yalin, Zhang Tengfei, Yang Ying, Zhang Xianqin
机构信息
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, Hubei, China.
Department of Children's Genetics Metabolic Endocrine Division, Guiyang Maternal and Child Health Care Hospital, Guiyang, 550003, Guizhou, China.
出版信息
Neurol Sci. 2023 Jul;44(7):2605-2608. doi: 10.1007/s10072-023-06748-2. Epub 2023 Mar 15.
PMID:36920572
Abstract
摘要
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