RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected

BACKGROUND: Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of uncertain significance (VUS), to clinical ph...

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Detalles Bibliográficos
Autores principales: Bjeloš, Mirjana, Bušić, Mladen, Ćurić, Ana, Bosnar, Damir, Šarić, Borna, Marković, Leon, Elabjer, Biljana Kuzmanović, Rak, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993575/
https://www.ncbi.nlm.nih.gov/pubmed/35402056
http://dx.doi.org/10.1155/2022/5710080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993575/
https://www.ncbi.nlm.nih.gov/pubmed/35402056
http://dx.doi.org/10.1155/2022/5710080

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