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| 논문분류 | 춘계학술대회 초록집 |
|---|---|
| 제목 | A novel missense mutation identified in a Korean family with X-linked Alport syndrome (AS) using next generation sequencing (NGS) |
| 저자 | Songhee Oh1, Mi Jung Kim1, Hyoungnae Kim1, Jin Seok Jeon1, Hyunjin Noh1, Dong Cheol Han1, Jieun Kim2, So-Young Jin3, Soon Hyo Kwon1 |
| 출판정보 | 2018; 2018(1): |
| 키워드 | Alport syndrome | proteinuria | hematuria | NGS | inherited kidney disease |
| 초록 | 1Department of Internal Medicine-Nephrology, Soonchunhyang University Seoul Hospital, Korea, Republic of, 2Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Korea, Republic of, 3Department of Pathology, Soonchunhyang University Seoul Hospital, Korea, Republic of |
| 원문(PDF) | PDF 원문보기 |
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