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Updated: Sep 11, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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新型拼接变种涉及两个摩洛哥家庭遗传的视网膜变

Kenza El Khair1,2, Aymane Bouzidi3, Majida Charif4

  • 1Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, Casablanca, 20360, Morocco.

Molecular biology reports
|August 12, 2025
PubMed
概括

这项研究确定了TTLL5和CABP4基因中的新型遗传变异,导致摩洛哥家庭遗传性视网膜发育不良 (IRD). 这些发现扩大了在这个人群中IRD已知的遗传原因.

关键词:
在 CABP4 中, CABP4 是TTLL5 TTLL5 的时间遗传性视网膜损伤 遗传性视网膜损伤拼接地点的变体整个外基因组的测序.

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