Cargando…
Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by...
Autores principales: | Audere, Māreta, Rutka, Katrīna, Šepetiene, Svetlana, Lāce, Baiba |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503555/ https://www.ncbi.nlm.nih.gov/pubmed/26229699 http://dx.doi.org/10.1155/2015/452068 |
Ejemplares similares
-
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
por: Cipriani, Valentina, et al.
Publicado: (2017) -
Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation
por: López-Rubio, Salvador, et al.
Publicado: (2018) -
Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
por: Huang, Xiangjun, et al.
Publicado: (2018) -
A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant
por: Saito, Kohei, et al.
Publicado: (2021) -
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa
por: El-Asrag, Mohammed E., et al.
Publicado: (2022)