Cargando…
Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract
PURPOSE: Cataract is a clinically and genetically heterogeneous disorder of the ocular lens and an important cause of visual impairment. The aim of this study was to map and identify the gene underlying autosomal dominant cataract segregating in a four-generation family, determine the lens expressio...
Autores principales: | Bennett, Thomas M., Maraini, Giovanni, Jin, Chongfei, Sun, Wenmin, Hejtmancik, J. Fielding, Shiels, Alan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626299/ https://www.ncbi.nlm.nih.gov/pubmed/23592921 |
Ejemplares similares
-
The EPHA2 gene is associated with cataracts linked to chromosome 1p
por: Shiels, Alan, et al.
Publicado: (2008) -
Cat-Map: putting cataract on the map
por: Shiels, Alan, et al.
Publicado: (2010) -
Germ-line and somatic EPHA2 coding variants in lens aging and cataract
por: Bennett, Thomas M., et al.
Publicado: (2017) -
Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome
por: Petroni, Roberta Cardoso, et al.
Publicado: (2017) -
Mutation analysis of the ferritin L-chain gene in age-related cataract
por: Assia, Nurit, et al.
Publicado: (2010)