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Updated: Jun 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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一种新型化合物异构体PCDH15变体与中国血统中的arRP有关

Hong Yang1,2,3, Ya-Juan Zhang3, Li Zhu3

  • 1Department of Ophthalmology, Eye, ENT Hospital of Fudan University, Shanghai, 200031, China.

BMC ophthalmology
|August 26, 2024
PubMed
概括

这项研究确定了中国一家患有自身逆性视网膜色素炎 (arRP) 的新型PCDH15基因变异. 这些发现促进了对arRP遗传学的理解,并有助于诊断和咨询.

关键词:
在PCDH15基因中.复合异合体变异的变体.外体序列的排序是如何进行的视网膜炎的颜色素

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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

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