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Updated: May 6, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

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绘制NPHP-JBTS-MKS蛋白质网络的地图揭示了纤毛病的疾病基因和途径

Liyun Sang1, Julie J Miller, Kevin C Corbit

  • 1Genentech Inc., South San Francisco, CA 94080, USA.

Cell
|May 14, 2011
PubMed
概括

这项研究确定了新基因和途径,涉及到状病变,如神经不全症 (NPHP),伯特 (JBTS) 和梅克尔-格鲁伯 (MKS) 综合征. 研究结果将特定的蛋白质模块与脏,视网膜和神经缺陷联系起来,进步了我们对这些复杂遗传疾病的理解.

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Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis07:26

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