ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone–rod dystrophy (CRD), and pan-retin...

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主要な著者:	María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Jordi Corominas, Christian Gilissen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Javier Ruiz-Ederra, Susanne Roosing
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2023-09-01
シリーズ:	Frontiers in Genetics
主題:	branchpoint variant midigene splice assay whole genome sequencing ABCA4 Stargardt disease
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1234032/full
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