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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Isabelle Perrault,Sylvain Hanein,Xavier Gerard, Nelson Mounguengue, Ryme Bouyakoub,Mohammed Zarhate,Cecile Fourrage,Fabienne Jabot-Hanin,Beatrice Bocquet,Isabelle Meunier,Xavier Zanlonghi,Josseline Kaplan,Jean-Michel Rozet

Genes（2021）

引用 4|浏览29
关键词
Leber congenital amaurosis,RPGRIP1,deep intronic variant,oligotherapy
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