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Volumn 75, Issue 3, 2014, Pages 208-209

Response to Li and Zhang: Infevers, a human gene mutation database for autoinflammatory diseases including disseminated superficial actinic porokeratosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MEVALONATE KINASE; PROTEIN; PHOSPHOTRANSFERASE;

EID: 84904981710     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2014.06.002     Document Type: Letter
Times cited : (6)

References (7)
  • 1
    • 84901650468 scopus 로고    scopus 로고
    • Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis
    • Li C., Zhang Z. Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis. J Dermatol Sci 2014.
    • (2014) J Dermatol Sci
    • Li, C.1    Zhang, Z.2
  • 3
    • 4143125654 scopus 로고    scopus 로고
    • Infevers: an evolving mutation database for auto-inflammatory syndromes
    • Touitou I., Lesage S., McDermott M., Cuisset L., Hoffman H., Dode C., et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004, 24:194-198.
    • (2004) Hum Mutat , vol.24 , pp. 194-198
    • Touitou, I.1    Lesage, S.2    McDermott, M.3    Cuisset, L.4    Hoffman, H.5    Dode, C.6
  • 4
    • 44849122715 scopus 로고    scopus 로고
    • The infevers autoinflammatory mutation online registry: update with new genes and functions
    • Milhavet F., Cuisset L., Hoffman H.M., Slim R., El-Shanti H., Aksentijevich I., et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 2008, 29:803-808.
    • (2008) Hum Mutat , vol.29 , pp. 803-808
    • Milhavet, F.1    Cuisset, L.2    Hoffman, H.M.3    Slim, R.4    El-Shanti, H.5    Aksentijevich, I.6
  • 5
    • 38149063754 scopus 로고    scopus 로고
    • Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
    • Wildeman M., van Ophuizen E., den Dunnen J.T., Taschner P.E. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 2008, 29:6-13.
    • (2008) Hum Mutat , vol.29 , pp. 6-13
    • Wildeman, M.1    van Ophuizen, E.2    den Dunnen, J.T.3    Taschner, P.E.4
  • 6
    • 0033039501 scopus 로고    scopus 로고
    • Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    • Drenth J.P., Cuisset L., Grateau G., Vasseur C., van de Velde-Visser S.D., de Jong J.G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999, 22:178-181.
    • (1999) Nat Genet , vol.22 , pp. 178-181
    • Drenth, J.P.1    Cuisset, L.2    Grateau, G.3    Vasseur, C.4    van de Velde-Visser, S.D.5    de Jong, J.G.6
  • 7
    • 84866933028 scopus 로고    scopus 로고
    • Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
    • Zhang S.Q., Jiang T., Li M., Zhang X., Ren Y.Q., Wei S.C., et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 2012, 44:1156-1160.
    • (2012) Nat Genet , vol.44 , pp. 1156-1160
    • Zhang, S.Q.1    Jiang, T.2    Li, M.3    Zhang, X.4    Ren, Y.Q.5    Wei, S.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.