Detalhe da pesquisa
1.
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.
Mol Ther
; 31(10): 2948-2961, 2023 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580905
2.
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
Mol Vis
; 27: 588-600, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703197
3.
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Transl Vis Sci Technol
; 12(3): 3, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36857066
4.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36785559
5.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
; 63(4): 20, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475888