A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant

A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant

Abstract Retinitis pigmentosa (RP) is a heterogenous hereditary disorder leading to blindness. Despite using next-generation sequencing technologies, causal variants in about 60% of RP cases remain unknown. The heterogeneous genetic inheritance pattern makes it difficult to pinpoint causal variants....

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Autores principales: Kohei Saito, Norimoto Gotoh, Inyeop Kang, Toshio Shimada, Takeshi Usui, Chikashi Terao
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/3f1269759009437093811c6307872aa5
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