Browsing bySubjectmutation

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Showing results 2 to 7 of 7

Issue DateTitleAuthor(s)Type
2004Charcot-Marie-Tooth 환자에서 GJB1, EGR2, NEFL 유전자 돌연변이 및 임상적, 전기생리학적, 병리학적 특성 분석趙賢智Master's Thesis
2017Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia허정원; 문영철; 정혜선; 정태동Article
2018PSEN1 p. Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease정지향Article
2017Simultaneous Profiling of DNA Mutation and Methylation by Melting Analysis Using Magnetoresistive Biosensor Array이정록Article
2019Somatic mutation of HLA-DRB1*04:03 in a patient with myelodysplastic syndrome at diagnosis허정원; 문영철; 정태동; 박설희Article
2005Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus조수진Article

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