Allelic Heterogeneity Contributes to Variability in Ocular Dysgenesis, Myopathy, and Brain Malformations Caused by Col4a1 and Col4a2 Mutations

被引:0
|
作者
Kuo, Debbie [1 ]
Labelle-Dumais, Cassandre [1 ]
Mao, Mao [1 ]
Jeanne, Marion [1 ]
Kauffman, William [1 ]
Allen, Jennifer [1 ]
Favor, Jack [2 ]
Gould, Douglas [1 ,3 ,4 ]
机构
[1] Univ Calif San Francisco, Ophthalmol, San Francisco, CA 94143 USA
[2] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[3] Univ Calif San Francisco, Anat, San Francisco, CA 94143 USA
[4] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
关键词
539; genetics; 519 extracellular matrix;
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R77 [眼科学];
学科分类号
100212 ;
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页数:3
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