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3. Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia. Baum L; Pang CP; Fan DS; Poon PM; Leung YF; Chua JK; Lam DS Hum Mutat; 1999 Sep; 14(3):272-3. PubMed ID: 10477494 [No Abstract] [Full Text] [Related]
4. Mutations in the PAX6 gene in patients with hereditary aniridia. Davis A; Cowell JK Hum Mol Genet; 1993 Dec; 2(12):2093-7. PubMed ID: 8111379 [TBL] [Abstract][Full Text] [Related]
5. A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. Gupta SK; Orr A; Bulman D; De Becker I; Guernsey DL; Neumann PE Can J Ophthalmol; 1999 Oct; 34(6):330-4. PubMed ID: 10604054 [TBL] [Abstract][Full Text] [Related]
6. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Glaser T; Walton DS; Maas RL Nat Genet; 1992 Nov; 2(3):232-9. PubMed ID: 1345175 [TBL] [Abstract][Full Text] [Related]
7. Identification of a novel PAX6 gene mutation in an aniridia patient. Sahly I; Abitbol M; Laurent C; Ghazi I; Ribeaudeau F; Vekemans M; Dufier JL Hum Mutat; 1996; 7(4):377. PubMed ID: 8723696 [No Abstract] [Full Text] [Related]
8. Three novel aniridia mutations in the human PAX6 gene. Martha A; Strong LC; Ferrell RE; Saunders GF Hum Mutat; 1995; 6(1):44-9. PubMed ID: 7550230 [TBL] [Abstract][Full Text] [Related]
9. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Glaser T; Jepeal L; Edwards JG; Young SR; Favor J; Maas RL Nat Genet; 1994 Aug; 7(4):463-71. PubMed ID: 7951315 [TBL] [Abstract][Full Text] [Related]
10. PAX6 gene variations associated with aniridia in south India. Neethirajan G; Krishnadas SR; Vijayalakshmi P; Shashikant S; Sundaresan P BMC Med Genet; 2004 Apr; 5():9. PubMed ID: 15086958 [TBL] [Abstract][Full Text] [Related]
11. Missense mutations in the PAX6 gene in aniridia. Azuma N; Hotta Y; Tanaka H; Yamada M Invest Ophthalmol Vis Sci; 1998 Dec; 39(13):2524-8. PubMed ID: 9856761 [TBL] [Abstract][Full Text] [Related]
12. A new PAX6 mutation in familial aniridia. Hanson I; Brown A; van Heyningen V J Med Genet; 1995 Jun; 32(6):488-9. PubMed ID: 7666404 [TBL] [Abstract][Full Text] [Related]
13. Ten novel mutations found in Aniridia. Wolf MT; Lorenz B; Winterpacht A; Drechsler M; Schumacher V; Royer-Pokora B; Blankenagel A; Zabel B; Wildhardt G Hum Mutat; 1998; 12(5):304-13. PubMed ID: 9792406 [TBL] [Abstract][Full Text] [Related]
14. Analysis of PAX6 gene in a Chinese aniridia family. Zhu HY; Wu LQ; Pan Q; Liang DS; Long ZG; Dai HP; Xia K; Xia JH Chin Med J (Engl); 2006 Aug; 119(16):1400-2. PubMed ID: 16934188 [No Abstract] [Full Text] [Related]
15. Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia. Saunders GF; Chao LY Hum Mutat; 1998; Suppl 1():S207-8. PubMed ID: 9452088 [No Abstract] [Full Text] [Related]
16. A novel PAX6 gene mutation in an Indian aniridia patient. Neethirajan G; Hanson IM; Krishnadas SR; Vijayalakshmi P; Anupkumar K; Sundaresan P Mol Vis; 2003 May; 9():205-9. PubMed ID: 12789139 [TBL] [Abstract][Full Text] [Related]
17. Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Glaser T; Ton CC; Mueller R; Petzl-Erler ML; Oliver C; Nevin NC; Housman DE; Maas RL Genomics; 1994 Jan; 19(1):145-8. PubMed ID: 8188215 [TBL] [Abstract][Full Text] [Related]
18. Mutation in the PAX6 gene in twenty patients with aniridia. Chao LY; Huff V; Strong LC; Saunders GF Hum Mutat; 2000; 15(4):332-9. PubMed ID: 10737978 [TBL] [Abstract][Full Text] [Related]
19. Various phenotypic expressions of familial aniridia with a PAX6 mutation. Negishi K; Azuma N; Yamada M Br J Ophthalmol; 1999 Aug; 83(8):991-2. PubMed ID: 10636680 [No Abstract] [Full Text] [Related]
20. A family with Rieger's syndrome and aniridia. Tham CC; Pang CP; Leung AT; Fan DS; Chua JK; Lam DS Eye (Lond); 2000 Aug; 14 ( Pt 4)():675-6. PubMed ID: 11040929 [No Abstract] [Full Text] [Related] [Next] [New Search]