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Journal Abstract Search

225 related items for PubMed ID: 24632595

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  • 3. Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.
    Zhang J, Qi A, Wang X, Pan H, Mo H, Huang J, Li H, Chen Z, Wei M, Wang B.
    Mol Vis; 2016; 22():1514-1521. PubMed ID: 28050124
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  • 6. Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing.
    Sung Y, Choi SW, Shim SH, Song WK.
    Ophthalmologica; 2019; 241(1):38-48. PubMed ID: 29975949
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  • 7. Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
    Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.
    Eur J Hum Genet; 2013 Nov; 21(11):1266-71. PubMed ID: 23443024
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  • 10. Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
    Lin B, Cai XB, Zheng ZL, Huang XF, Liu XL, Qu J, Jin ZB.
    Sci Rep; 2016 Oct 14; 6():35414. PubMed ID: 27739528
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  • 12. Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
    Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q.
    PLoS One; 2015 Oct 14; 10(7):e0132635. PubMed ID: 26161775
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  • 14. Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
    Hu FY, Gao FJ, Li JK, Xu P, Wang DD, Zhang SH, Wu JH.
    BMC Med Genet; 2020 Oct 31; 21(1):213. PubMed ID: 33129279
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  • 15. Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
    Zolnikova IV, Strelnikov VV, Skvortsova NA, Tanas AS, Barh D, Rogatina EV, Egorova IV, Levina DV, Demenkova ON, Prikaziuk EG, Ivanova ME.
    Eur J Med Genet; 2017 Feb 31; 60(2):140-147. PubMed ID: 27939946
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  • 17. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
    Battu R, Verma A, Hariharan R, Krishna S, Kiran R, Jacob J, Ganapathy A, Ramprasad VL, Kumaramanickavel G, Jeyabalan N, Ghosh A.
    Biomed Res Int; 2015 Feb 31; 2015():940864. PubMed ID: 25922843
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  • 18. Analysis of the ABCA4 genomic locus in Stargardt disease.
    Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.
    Hum Mol Genet; 2014 Dec 20; 23(25):6797-806. PubMed ID: 25082829
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  • 19. Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
    Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.
    Invest Ophthalmol Vis Sci; 2017 Jan 01; 58(1):394-403. PubMed ID: 28118664
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  • 20. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.
    Salles MV, Motta FL, Dias da Silva E, Varela P, Costa KA, Filippelli-Silva R, Martin RP, Chiang JP, Pesquero JB, Sallum JMF.
    Invest Ophthalmol Vis Sci; 2017 Nov 01; 58(13):5723-5730. PubMed ID: 29114839
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