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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]