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Article

Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.

Scientific reports - 24 Oct 2024

Jang Mi-Ae, Lee Jong Kwon, Park Jong-Ho, Hwang Sungsoon, Kim Young-Gon, Kim Jong-Won, Hong Youn-Ji, Kim Sang Jin, Jang Ja-Hyun

Abstract excerpt

Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established. We aim to investigate the frequency of AluY in individuals with or without IRDs and to overcome common diagnostic pitfalls associated with AluY insertion. A total of 1,072...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39448676
DOI: 10.1038/s41598-024-76509-4
PMCID: PMC11502683

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