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6. A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. Fuchs S; Xu SY; Caballero M; Salcedo M; La O A; Wedemann H; Gal A Hum Mol Genet; 1994 Apr; 3(4):655-6. PubMed ID: 8069314 [No Abstract] [Full Text] [Related]
7. Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype. Caballero M; Veske A; Rodriguez JJ; Lugo N; Schroeder B; Hesse L; Gal A Ophthalmic Genet; 1996 Dec; 17(4):187-91. PubMed ID: 9010869 [TBL] [Abstract][Full Text] [Related]
8. A further observation of corneal dystrophy and perceptive deafness in two siblings. Magli A; Capasso L; Foà T; Maurino V; Ventruto V Ophthalmic Genet; 1997 Jun; 18(2):87-91. PubMed ID: 9228245 [TBL] [Abstract][Full Text] [Related]
9. Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. Kellner U; Fuchs S; Bornfeld N; Foerster MH; Gal A Ophthalmic Genet; 1996 Jun; 17(2):67-74. PubMed ID: 8832723 [TBL] [Abstract][Full Text] [Related]
10. Brown-McLean syndrome occurring in a corneal graft. Sugar A Cornea; 1997 Jul; 16(4):493-4. PubMed ID: 9220251 [TBL] [Abstract][Full Text] [Related]
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12. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Meitinger T; Meindl A; Bork P; Rost B; Sander C; Haasemann M; Murken J Nat Genet; 1993 Dec; 5(4):376-80. PubMed ID: 8298646 [TBL] [Abstract][Full Text] [Related]
13. Bilateral recurrence of macular corneal dystrophy (Fehr or Groenouw type II) after penetrating keratoplasty. Neetens A; Martin JJ; Libert J; Van Aerde F Bull Soc Belge Ophtalmol; 1978; 182():33-41. PubMed ID: 387145 [No Abstract] [Full Text] [Related]
14. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Shastry BS; Hejtmancik JF; Trese MT Hum Mutat; 1997; 9(5):396-401. PubMed ID: 9143917 [TBL] [Abstract][Full Text] [Related]
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16. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Shastry BS Biochem Biophys Res Commun; 1998 May; 246(1):35-8. PubMed ID: 9618247 [TBL] [Abstract][Full Text] [Related]
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