Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
Hum. Genet.2017 Nov;136(11-12):1463-1475. Epub 2017 Nov 01
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摘要
) and CRISPR/Cas9-mediated MITF bi-allelic knockout pigs both exhibited anophthalmia. Three WS2 patients carrying MITF mutations adjacent to the corresponding region were also identified. The pig models resemble the clinical symptom and molecular pathology of human WS2A patients perfectly, which will provide new clues for better understanding the etiology and development of novel treatment strategies for human HL.
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基因功能
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原始数据
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文献解读
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