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Volumn 1, Issue 1, 2012, Pages 10-12

Rare diseases research in China: Opportunities, challenges, and solutions

Author keywords

China; development; epidemiology; Rare disease

Indexed keywords


EID: 84896840154     PISSN: 21863644     EISSN: 2186361x     Source Type: Journal    
DOI: 10.5582/irdr.2012.v1.1.10     Document Type: Article
Times cited : (12)

References (10)
  • 1
    • 85024457486 scopus 로고    scopus 로고
    • Current status and prospect of the research on rare diseases
    • (in Chinese)
    • Han J, Cui Y, Zhou X. Current status and prospect of the research on rare diseases. Chinese Journal of Rare and Uncommon Diseases. 2011; 18:1-6. (in Chinese)
    • (2011) Chinese Journal of Rare and Uncommon Diseases , vol.18 , pp. 1-6
    • Han, J.1    Cui, Y.2    Zhou, X.3
  • 2
    • 80052304551 scopus 로고    scopus 로고
    • The epidemiological, clinical, and laboratory features of sporadic CreutzfeldtJakob disease patients in China: Surveillance data from 2006 to 2010
    • e24231
    • Gao C, Shi Q, Tian C, Chen C, Han J, Zhou W, Zhang BY, Jiang HY, Zhang J, Dong X.P. The epidemiological, clinical, and laboratory features of sporadic CreutzfeldtJakob disease patients in China: Surveillance data from 2006 to 2010. PLoS One. 2011; 6:e24231.
    • (2011) PLoS One , vol.6
    • Gao, C.1    Shi, Q.2    Tian, C.3    Chen, C.4    Han, J.5    Zhou, W.6    Zhang, B.Y.7    Jiang, H.Y.8    Zhang, J.9    Dong, X.P.10
  • 4
    • 80052190250 scopus 로고    scopus 로고
    • China's first rare-disease registry is under development
    • Zhang YJ, Wang YO, Li L, Guo JJ, Wang J.B. China's first rare-disease registry is under development. Lancet. 2011; 378:769-770.
    • (2011) Lancet , vol.378 , pp. 769-770
    • Zhang, Y.J.1    Wang, Y.O.2    Li, L.3    Guo, J.J.4    Wang, J.B.5
  • 5
    • 76149140485 scopus 로고    scopus 로고
    • Prevalence, distribution, and morphology of ossification of the ligamentum flavum: A population study of one thousand seven hundred thirty-six magnetic resonance imaging scans
    • Guo JJ, Luk KD, Karppinen J, Yang H, Cheung K.M. Prevalence, distribution, and morphology of ossification of the ligamentum flavum: A population study of one thousand seven hundred thirty-six magnetic resonance imaging scans. Spine (Phila Pa 1976). 2010; 35:51-56.
    • (2010) Spine (Phila Pa 1976) , vol.35 , pp. 51-56
    • Guo, J.J.1    Luk, K.D.2    Karppinen, J.3    Yang, H.4    Cheung, K.M.5
  • 6
    • 79958806209 scopus 로고    scopus 로고
    • Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa)
    • Liu Y, Gao M, Lv YM, et al. Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa). J Invest Dermatol. 2011; 131:1570-1572.
    • (2011) J Invest Dermatol , vol.131 , pp. 1570-1572
    • Liu, Y.1    Gao, M.2    Lv, Y.M.3
  • 7
    • 78649890408 scopus 로고    scopus 로고
    • TGM6 identified as a novel causative gene of spinocerebellar at axias using exome sequencing
    • Wang JL, Yang X, Xia K, et al. TGM6 identified as a novel causative gene of spinocerebellar at axias using exome sequencing. Brain. 2010; 133:3510-3518.
    • (2010) Brain , vol.133 , pp. 3510-3518
    • Wang, J.L.1    Yang, X.2    Xia, K.3
  • 8
    • 79959829340 scopus 로고    scopus 로고
    • Exome sequencing identifies ZNF644 mutations in high myopia
    • e1002084.
    • Shi Y, Li Y, Zhang D, et al. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet. 2011; 7:e1002084.
    • (2011) PLoS Genet , vol.7
    • Shi, Y.1    Li, Y.2    Zhang, D.3
  • 9
    • 74049127960 scopus 로고    scopus 로고
    • Genomewide association study of leprosy
    • Zhang FR, Huang W, Chen SM, et al. Genomewide association study of leprosy. N Engl J Med. 2009; 361:2609-2618.
    • (2009) N Engl J Med , vol.361 , pp. 2609-2618
    • Zhang, F.R.1    Huang, W.2    Chen, S.M.3
  • 10
    • 82255179222 scopus 로고    scopus 로고
    • Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy
    • (Received January 4, 2012; Revised January 31, 2012; Accepted February 1, 2012)
    • Zhang F, Liu H, Chen S, et al. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet. 2011; 43:1247-1251. (Received January 4, 2012; Revised January 31, 2012; Accepted February 1, 2012)
    • (2011) Nat Genet , vol.43 , pp. 1247-1251
    • Zhang, F.1    Liu, H.2    Chen, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.