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[2025] The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and ...

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admin
Date
2025-01-12 15:12
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467
링크 : https://www.annlabmed.org/journal/view.html?uid=3595&vmd=Full

일자 : 2025.01

제목 : The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry

Kyoung Bo Kim , M.D.1, Gi Su Lee , M.D.2, Soyoung Shin , Ph.D.3, Dong-Chan Kim , Ph.D.4, Donggun Seo , B.S.P.H.4, Hyeongjin Kweon , B.S.4, Hyein Kang , M.D1, Sunggyun Park , M.D.1, Do-Hoon Kim , Ph.D.1, Namhee Ryoo , Ph.D.1, Soyoung

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