在巴德特-比德尔综合征中,新的BBS1删除和BBS9无意义的致病变体

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Updated: Jun 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Janice Min Li1, Erika Tavares1, Jacque L Duncan2

  • 1Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Ophthalmic genetics
|December 2, 2024
PubMed
概括

下一代测序在巴德特-比德尔综合征 (BBS) 病例中发现了新的遗传变异. 整个外体和基因组测序对于诊断未解决的视网膜退行性BBS病例至关重要.

关键词:
BBS1 BBS1 BBS1 BBS1 BBS1 BBS1 BBS1 BBS1 BBS1 BBS2 BBS3 BBS4 BBS5 BBS6 BBS7 BBS8 BBS8 BBS9 BBS9 BBS9 BBS9BBS9 BBS9 BBS9 BBS9 BBS9 BBS9 BBS9 BBS9 BBS9 BBS9 BBS9巴德特-比德尔综合征 (BBS) 是一种疾病.纤毛病是一种纤毛病.删除删除删除删除这种新型变种是新奇的.他们是多角形的.染色体视网膜炎 (RP) 是一种

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