Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: A report of 23 novel mutations and modeling of TGase-1

被引:0
作者
Herman, M. L. [1 ]
Farasat, S. [1 ]
Steinbach, P. J. [2 ]
Wei, M. [1 ,3 ]
Toure, O. [1 ]
Fleckman, P. [4 ]
Blake, P. W. [1 ,5 ]
Bale, S. J. [6 ]
Toro, J. R. [1 ]
机构
[1] NCI, Genet Epidemiol Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA
[2] NIH, Ctr Mol Modeling, Div Computat Biosci, Ctr Informat Technol, Bethesda, MD 20892 USA
[3] SAIC Frederick Inc, Basic Res Program, Frederick, MD USA
[4] Univ Washington, Div Med, Dematol Branch, Seattle, WA 98195 USA
[5] Howard Hughes Med Inst, Res Scholars Program, Bethesda, MD 20817 USA
[6] GeneDx Inc, Gaithersburg, MD USA
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中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
475
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页码:S80 / S80
页数:1
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