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Journal Abstract Search

1378 related items for PubMed ID: 24938718

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  • 2. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
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  • 5. Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
    Wang J, Xu D, Zhu T, Zhou Y, Chen X, Wang F, Zhang J, Tian H, Gao F, Zhang J, Jin C, Xu J, Lu L, Liu Q, Xu GT.
    Exp Eye Res; 2019 Nov; 188():107726. PubMed ID: 31319082
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  • 6. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
    Dan H, Huang X, Xing Y, Shen Y.
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1131. PubMed ID: 31960602
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  • 8. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Mar; 19():2187-95. PubMed ID: 24227914
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  • 9. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B.
    Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
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  • 10. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X.
    Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
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  • 12. Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.
    Astuti GD, Arno G, Hull S, Pierrache L, Venselaar H, Carss K, Raymond FL, Collin RW, Faradz SM, van den Born LI, Webster AR, Cremers FP.
    Invest Ophthalmol Vis Sci; 2016 Nov 01; 57(14):6180-6187. PubMed ID: 27842159
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  • 13. Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
    Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q.
    Curr Eye Res; 2021 Jun 01; 46(6):839-844. PubMed ID: 33104391
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  • 16. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct 01; 60(10):625-30. PubMed ID: 26246154
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  • 17. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
    Zhong Z, Yan M, Sun W, Wu Z, Han L, Zhou Z, Zheng F, Chen J.
    Sci Rep; 2016 Nov 25; 6():37840. PubMed ID: 27886254
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  • 18. Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
    Gan L, Yang C, Shu Y, Liu F, Sun R, Deng B, Xu J, Huang G, Qu C, Gong B, Li J.
    Clin Chim Acta; 2020 Aug 25; 507():17-22. PubMed ID: 32277948
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  • 19. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
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