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RP1L1基因突变所致黄斑营养不良一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Ocular Fundus Diseases
- Issue:
- 3
- DOI:
- 10.3760/cma.j.cn511434-20181204-00415
- Key Word:
- 视网膜营养不良／诊断;眼疾病;遗传性;基因;突变;病例报告
Abstract： No abstract available
- [1]欧阳艳玲,张勇进,徐格致,等.不同病变时期Best卵黄样黄斑营养不良的光相干断层扫描图像特征[J].2012,(4).
- [2]曹绪胜,马凯,纪海霞,等.儿童遗传性视网膜疾病的眼底自身荧光表现[J].2011,(4).
- [3]何颖,戴旭锋,张华,等.Stargardt病基因治疗研究现状与进展[J].2016,(2).
- [4]钱海滨,刘晓玲.Best病的分子遗传学研究进展[J].2011,(5).
- [5]潘雪梅,王兴荣,袁明俊.Stargardt病的荧光素眼底血管造影和光相干断层扫描特征[J].2008,(2).
- [6]David B,Kay.Outer retinal structure in best vitelliform macular dystrophy.[J].2013,131.
- [7]Duncker, Tobias,Marsiglia, Marcela,Lee, Winston,etc.Correlations Among Near-Infrared and Short-Wavelength Autofluorescence and Spectral-Domain Optical Coherence Tomography in Recessive Stargardt Disease[J].2014,55(12).
- [8]Giuseppe, Querques,Jennyfer, Zerbib,Anouk, Georges,etc.Multimodal analysis of the progression of Best vitelliform macular dystrophy.[J].2014,20.
- [9]Fujinami, Kaoru,Yang, Lizhu,Joo, Kwangsic,etc.Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease)[J].2019,126(10).
- [10]Fujinami, Kaoru,Zernant, Jana,Chana, Ravinder K.,etc.Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease[J].2015,122(2).
- [11]Kato, Yu,Hanazono, Gen,Fujinami, Kaoru,etc.Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy[J].2017,58(14).
- [12]Piermarocchi, Stefano,Segato, Tatiana,Leon, Alberta,etc.Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene[J].2016,13(3 Pt.B).
- [13].Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family[J].2017.
- [14]Takahashi,H.,Hayashi,T.,Tsuneoka,H.,etc.Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P)[J].2014,129(1).
- [15]Ahn,S.J.,Cho,S.I.,Ahn,J.,etc.Clinical and genetic characteristics of Korean occult macular dystrophy patients[J].2013,54(7).
- [16]Scholl,H.P.N.,Birch,D.G.,Iwata,T.,etc.Characterizing the phenotype and genotype of a family with occult macular dystrophy[J].2012,130(12).
- [17]Takenori, Kabuto,Hisatomo, Takahashi,Yoko, Goto-Fukuura,etc.A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.[J].2012,18.
- [18]Sara J, Bowne,Stephen P, Daiger,Kimberly A, Malone,etc.Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.[J].2003,9.