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Journal Abstract Search


88 related items for PubMed ID: 9699564

  • 21. X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene.
    Hiraoka M, Trese MT, Shastry BS.
    Biochem Biophys Res Commun; 2000 Feb 16; 268(2):370-2. PubMed ID: 10679210
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  • 23. Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
    Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2002 Jun 16; 43(6):1971-9. PubMed ID: 12037007
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  • 25. Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.
    Shinoda K, Ishida S, Oguchi Y, Mashima Y.
    Ophthalmic Genet; 2000 Sep 16; 21(3):171-80. PubMed ID: 11035549
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  • 27. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.
    Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.
    Eur J Haematol; 2004 May 16; 72(5):330-5. PubMed ID: 15059067
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  • 28. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
    Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2000 Aug 16; 41(9):2712-21. PubMed ID: 10937588
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  • 29. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.
    Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE.
    Mol Vis; 1998 Oct 06; 4():20. PubMed ID: 9772276
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  • 32. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
    Schmitt-Bernard CF, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S.
    Invest Ophthalmol Vis Sci; 2000 May 06; 41(6):1302-8. PubMed ID: 10798644
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  • 33. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.
    Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y, Tano Y.
    Invest Ophthalmol Vis Sci; 1998 Sep 06; 39(10):1947-53. PubMed ID: 9727418
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  • 34. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
    Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J.
    Chin Med J (Engl); 2000 Feb 06; 113(2):111-6. PubMed ID: 11775531
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  • 35. Genetic bases of human complement C7 deficiency.
    Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE.
    J Immunol; 1996 Nov 01; 157(9):4239-43. PubMed ID: 8892662
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  • 37. Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene.
    Aslam S, Bowen DJ, Mandalaki T, Gialeraki R, Standen GR.
    Am J Hematol; 1996 Oct 01; 53(2):77-80. PubMed ID: 8892731
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  • 38. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave.
    Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K.
    Am J Ophthalmol; 1999 Aug 01; 128(2):179-84. PubMed ID: 10458173
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