메뉴 건너뛰기




Volumn 34, Issue 4, 1997, Pages 279-286

The incidence of PAX6 mutation in patients with simple aniridia: An evaluation of mutation detection in 12 cases

Author keywords

Aniridia; Mutation; PAX6

Indexed keywords

ANIRIDIA; ARTICLE; CLINICAL ARTICLE; ENHANCER REGION; EXON; FAMILY HISTORY; GENE MUTATION; HUMAN; INTRON; PRIORITY JOURNAL; PROTEIN STRUCTURE; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0030927863     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.279     Document Type: Article
Times cited : (46)

References (14)
  • 1
  • 2
    • 0025954965 scopus 로고
    • Pax: A murine multigene family of paired-box-containing genes
    • Walther C, Guenet JL, Simon D, et al. Pax: a murine multigene family of paired-box-containing genes. Genomics 1991;11:424-34.
    • (1991) Genomics , vol.11 , pp. 424-434
    • Walther, C.1    Guenet, J.L.2    Simon, D.3
  • 3
    • 0026345992 scopus 로고
    • Mouse Small eye results from mutations in a paired-like homeo-containing gene
    • Hill RE, Favor J, Hogan BLM, et al. Mouse Small eye results from mutations in a paired-like homeo-containing gene. Nature 1991;354:522-5.
    • (1991) Nature , vol.354 , pp. 522-525
    • Hill, R.E.1    Favor, J.2    Hogan, B.L.M.3
  • 4
    • 0026907123 scopus 로고
    • The human PAX6 gene is mutated in two patients with aniridia
    • Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992;1:328-32.
    • (1992) Nat Genet , vol.1 , pp. 328-332
    • Jordan, T.1    Hanson, I.2    Zaletayev, D.3
  • 5
    • 0027965633 scopus 로고
    • Homology of the eyeless gene of Drosophila to the Small eye gene in mice and aniridia in humans
    • Quiring R, Walldorf U, Kloter U, Gehring WJ. Homology of the eyeless gene of Drosophila to the Small eye gene in mice and aniridia in humans. Science 1994;265:785-9.
    • (1994) Science , vol.265 , pp. 785-789
    • Quiring, R.1    Walldorf, U.2    Kloter, U.3    Gehring, W.J.4
  • 6
    • 0029880501 scopus 로고    scopus 로고
    • Isolation of a Pax-6 homolog from the ribbonworm Lincus sanguineus
    • Loosli F, Kmita-Cunisse M, Gehring WJ. Isolation of a Pax-6 homolog from the ribbonworm Lincus sanguineus. Proc Natl Acad Sci USA 1996;93:2658-63.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 2658-2663
    • Loosli, F.1    Kmita-Cunisse, M.2    Gehring, W.J.3
  • 7
    • 0026340588 scopus 로고
    • Pax-6, a murine paired box gene is expressed in the developing CNS
    • Walther C, Gruss P. Pax-6, a murine paired box gene is expressed in the developing CNS. Development 1991;113:1435-49.
    • (1991) Development , vol.113 , pp. 1435-1449
    • Walther, C.1    Gruss, P.2
  • 8
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
    • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232-9.
    • (1992) Nat Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.L.3
  • 9
    • 0028944665 scopus 로고
    • Induction of ectopic eyes by targeted expression of the eyeless gene in Drosopliila
    • Halder G, Callaerts P, Gehring WJ. Induction of ectopic eyes by targeted expression of the eyeless gene in Drosopliila. Science 1995;267:1788-92.
    • (1995) Science , vol.267 , pp. 1788-1792
    • Halder, G.1    Callaerts, P.2    Gehring, W.J.3
  • 10
    • 0026315044 scopus 로고
    • Positional cloning and characterization of a paired box- And homeobox-containing gene from the aniridia region
    • Ton CCT, Hiryonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991;67:1059-74.
    • (1991) Cell , vol.67 , pp. 1059-1074
    • Ton, C.C.T.1    Hiryonen, H.2    Miwa, H.3
  • 11
    • 0028294152 scopus 로고
    • Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
    • Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet 1994;54:801-11.
    • (1994) Am J Hum Genet , vol.54 , pp. 801-811
    • Martha, A.1    Ferrell, R.E.2    Mintz-Hittner, H.3    Lyons, L.A.4    Saunders, G.F.5
  • 13
    • 16944362615 scopus 로고
    • Identification of a new mutation causing aniridia in the PST domain of PAX6
    • Sahly I, Abitbol M, Ghazi I, et al. Identification of a new mutation causing aniridia in the PST domain of PAX6. Vision Res 1995;35:2137.
    • (1995) Vision Res , vol.35 , pp. 2137
    • Sahly, I.1    Abitbol, M.2    Ghazi, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.