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Disease name
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알포트 증후군
Alport syndrome
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Registry name
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Korean alport syndrome patients registry |
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Initial update
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1998-01-06 |
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Last update
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2010-12-30 |
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The number of registered patients
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144 |
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The number of registered genes
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75 |
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Director
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정해일, MD, PhD |
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Address
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서울특별시 종로구 대학로 101 (110-744) 서울대학교 어린이병원 소아청소년 콩팥병센터 |
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Email
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cheonghi@snu.ac.kr |
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Contact
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02-2072-3584,3585 |
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Patient's registry URL
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http://bioemr.snubi.org:8080/bioemr/rdrc
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References
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Mutational analysis of COL4A5 gene in Korean Alport syndrome. Cheong HI, Park HW, Ha IS, Choi Y. Pediatr Nephrol. 2000 Feb;14(2):117-21.
PMID:
10684360
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Pattern of double glomerulopathy in children. Cheong HI, Cho HY, Moon KC, Ha IS, Choi Y. Pediatr Nephrol. 2007 Apr;22(4):521-7.
PMID:
17109138
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Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome. Cheong HI, Kashtan CE, Kim Y, Kleppel MM, Michael AF. Lab Invest. 1994 Apr;70(4):553-7.
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Immunochemical studies of the Alport antigen. Kleppel MM, Fan WW, Cheong HI, Kashtan CE, Michael AF. Kidney Int. 1992 Jun;41(6):1629-37.
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Evidence for separate networks of classical and novel basement membrane collagen. Characterization of alpha 3(IV)-alport antigen heterodimer. Kleppel MM, Fan W, Cheong HI, Michael AF. J Biol Chem. 1992 Feb 25;267(6):4137-42.
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