A novel locus for Leber congenital amaurosis maps to chromosome 6q.
作者信息
Dharmaraj S, Li Y, Robitaille J M, Silva E, Zhu D, Mitchell T N, Maltby L P, Baffoe-Bonnie A B, Maumenee I H
出版信息
Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719.
Abstract
摘要
相似文献
1
A novel locus for Leber congenital amaurosis maps to chromosome 6q.
Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719.
2
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.
3
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825.
4
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
Invest Ophthalmol Vis Sci. 2004 Jan;45(1):30-5. doi: 10.1167/iovs.03-0392.
5
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.
6
A gene for Leber's congenital amaurosis maps to chromosome 17p.
Hum Mol Genet. 1995 Aug;4(8):1447-52. doi: 10.1093/hmg/4.8.1447.
7
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
Hum Genet. 1996 Jun;97(6):798-801. doi: 10.1007/BF02346192.
8
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641.
9
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.
Am J Hum Genet. 1996 Jul;59(1):103-8.
10
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1).
Arch Ophthalmol. 1997 Jan;115(1):95-9. doi: 10.1001/archopht.1997.01100150097016.
引用本文的文献
1
CRISPR-Cas9 correction of a nonsense mutation in rescues lebercilin expression and localization in human retinal organoids.
Mol Ther Methods Clin Dev. 2023 May 17;29:522-531. doi: 10.1016/j.omtm.2023.05.012. eCollection 2023 Jun 8.
2
Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the Gene.
Genes (Basel). 2023 Jan 22;14(2):291. doi: 10.3390/genes14020291.
3
Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261.
4
Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.
Appl Clin Genet. 2020 Nov 25;13:179-208. doi: 10.2147/TACG.S230720. eCollection 2020.
5
Overexpression of FAM46A, a Non-canonical Poly(A) Polymerase, Promotes Hemin-Induced Hemoglobinization in K562 Cells.
Front Cell Dev Biol. 2020 May 26;8:414. doi: 10.3389/fcell.2020.00414. eCollection 2020.
6
The human GCOM1 complex gene interacts with the NMDA receptor and internexin-alpha.
Gene. 2018 Mar 30;648:42-53. doi: 10.1016/j.gene.2018.01.029. Epub 2018 Jan 12.
7
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.
8
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.
Ophthalmic Genet. 2017 Jan-Feb;38(1):7-15. doi: 10.1080/13816810.2016.1275021. Epub 2017 Jan 17.
9
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17.
10
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Mol Vis. 2011;17:1940-5. Epub 2011 Jul 16.
本文引用的文献
1
Retinal Aplasia as a Clinical Entity.
Br Med J. 1960 Jan 30;1(5169):293-7. doi: 10.1136/bmj.1.5169.293.
2
Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.
Am J Ophthalmol. 1961 Nov;52:625-33. doi: 10.1016/0002-9394(61)90147-7.
3
Hereditary renal dysplasia and blindness.
Acta Paediatr (Stockh). 1961 Mar;50:177-84. doi: 10.1111/j.1651-2227.1961.tb08037.x.
4
5
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Am J Hum Genet. 1999 Feb;64(2):422-34. doi: 10.1086/302251.
6
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825.
7
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
Am J Hum Genet. 1998 Nov;63(5):1307-15. doi: 10.1086/302101.
8
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Eur J Hum Genet. 1998 May-Jun;6(3):291-5. doi: 10.1038/sj.ejhg.5200221.
9
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641.
10
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.
Am J Hum Genet. 1998 Jul;63(1):274-9. doi: 10.1086/301905.
Zotero 插件