Associated Papers
Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.
Pan L et al.
Scientific Reports, 2025
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
An unusual ectopic thymoma clonal evolution analysis: A case report.
Zhang S et al.
Open Life Sciences, 2023
37215501 (PubMed )
Supplement: biol-2022-0600-sm.pdf
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
Cao B et al.
Plos One, 2016
[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Guo MM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.
Xie H et al.
Plos One, 2012
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Wang J et al.
Journal of Human Genetics, 2011
[Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].
Wang JM et al.
Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010
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