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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

Anais F. Poncet,Olivier Grunewald,Veronika Vaclavik,Isabelle Meunier,Isabelle Drumare,Valerie Pelletier,Beatrice Bocquet,Margarita G. Todorova,Anne-Gaelle Le Moing,Aurore Devos,Daniel F. Schorderet,Florence Jobic,Sabine Defoort-Dhellemmes,Helene Dollfus,Vasily M. Smirnov,Claire-Marie Dhaenens

International journal of molecular sciences（2022）

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关键词
MFSD8 gene,isolated macular dystrophy,neuronal ceroid lipofuscinosis,deep intronic variant,transcript analysis
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