Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa

element insertion in the exon 4 of the gene was newly identified through whole genome sequencing (WGS). This was not detected in previous next-generation sequencing (NGS) analysis. We report three cases of Korean retinitis pigmentosa (RP) patients with compound heterozygous variants including elemen...

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Veröffentlicht in:	Genes 2024-09, Vol.15 (10), p.1290
Hauptverfasser:	Kwon, Hye-Ji, Lee, Beom-Hee, Lee, Joo-Yong
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alu Elements - genetics Asymptomatic Diagnosis DNA sequencing Eye Proteins - genetics Family medical history Female Gene mutations Genetic aspects Genetic counseling Genetic testing Genomes Humans Identification and classification Insertion Male Microtubule-Associated Proteins Middle Aged Mutagenesis, Insertional Mutation Next-generation sequencing Nucleotide sequencing Patients Pedigree Physiological aspects Point mutation Retinitis pigmentosa Retinitis Pigmentosa - genetics Rp1 gene Visual acuity Whole genome sequencing Whole Genome Sequencing - methods
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