Clinical Observation and Genotype-Phenotype Analysis of ABCA4-Related Hereditary Retinal Degeneration before Gene Therapy

BACKGROUND: Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical and genetic heterogeneity. We determined genotypic and phenotypic correlations,...

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Detalles Bibliográficos
Autores principales: Xiao, Xuan, Ye, Lin, Chen, Changzheng, Zheng, Hongmei, Yuan, Jiajia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2022
Materias:
Genetics & Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495610/
https://www.ncbi.nlm.nih.gov/pubmed/35170407
http://dx.doi.org/10.2174/1566523222666220216101539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495610/
https://www.ncbi.nlm.nih.gov/pubmed/35170407
http://dx.doi.org/10.2174/1566523222666220216101539

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