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A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC. Choi SA, et al. Among authors: choi je, choi j. Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516. Ann Lab Med. 2017. PMID: 28840990 Free PMC article.
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