Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
作者信息
Perrault I, Rozet J M, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier J L, Munnich A, Kaplan J
出版信息
Am J Hum Genet. 1999 Apr;64(4):1225-8. doi: 10.1086/302335.
Abstract
摘要
相似文献
1
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Am J Hum Genet. 1999 Apr;64(4):1225-8. doi: 10.1086/302335.
2
Mutational analysis and clinical correlation in Leber congenital amaurosis.
Ophthalmic Genet. 2000 Sep;21(3):135-50.
3
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538.
4
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
Vision Res. 2003 Dec;43(28):3087-93. doi: 10.1016/j.visres.2003.08.008.
5
Leber congenital amaurosis.
Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906.
6
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
Eur J Hum Genet. 2000 Aug;8(8):578-82. doi: 10.1038/sj.ejhg.5200503.
7
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067.
8
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
Invest Ophthalmol Vis Sci. 2000 Mar;41(3):629-33.
9
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Am J Ophthalmol. 2007 Dec;144(6):791-811. doi: 10.1016/j.ajo.2007.08.022. Epub 2007 Oct 26.
10
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Retina. 2005 Oct-Nov;25(7):919-29. doi: 10.1097/00006982-200510000-00016.
引用本文的文献
1
Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases.
J Clin Med. 2024 Sep 18;13(18):5512. doi: 10.3390/jcm13185512.
2
Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.
Case Rep Ophthalmol. 2023 Sep 19;14(1):454-461. doi: 10.1159/000530086. eCollection 2023 Jan-Dec.
3
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):13. doi: 10.1167/iovs.63.2.13.
4
Early onset flecked retinal dystrophy associated with new compound heterozygous variants.
Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018.
5
A Gene Scan Study of in Chinese Patients with Leber Congenital Amaurosis.
Chin Med J (Engl). 2017 Nov 20;130(22):2709-2712. doi: 10.4103/0366-6999.218007.
6
Retinal Gene Therapy: Current Progress and Future Prospects.
Expert Rev Ophthalmol. 2015 Jun;10(3):281-299. doi: 10.1586/17469899.2015.1035711. Epub 2015 Apr 10.
7
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
J Ophthalmol. 2015;2015:693468. doi: 10.1155/2015/693468. Epub 2015 May 13.
8
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
PLoS One. 2014 Nov 10;9(11):e112400. doi: 10.1371/journal.pone.0112400. eCollection 2014.
9
Insights gained from gene therapy in animal models of retGC1 deficiency.
Front Mol Neurosci. 2014 May 14;7:43. doi: 10.3389/fnmol.2014.00043. eCollection 2014.
10
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.
Zotero 插件