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Eye
Volumn 12, Issue 2, 1998, Pages 299-303
PAX 6 is normal in most cases of Peters' anomaly
Author keywords

PAX 6; Peters' anomaly
Indexed keywords

ANIRIDIA; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; GEL ELECTROPHORESIS; GENE MUTATION; GENE SEQUENCE; HUMAN; PETERS ANOMALY; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;
EID: 0031798533     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.1998.69     Document Type: Article
Times cited : (26)
References (10)
  • 1
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  • 2
    • 0028058986 scopus 로고
    • Human haploinsufficiency: One for sorrow, two for joy
    • Fisher E, Scrambler P. Human haploinsufficiency: one for sorrow, two for joy. Nature Genet 1994;7:5-7.
    • (1994) Nature Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scrambler, P.2
  • 3
    • 0030162151 scopus 로고    scopus 로고
    • PAX 6 missense mutation in isolated foveal hypoplasia
    • Azuma N, Nishina S. PAX 6 missense mutation in isolated foveal hypoplasia. Nature Genet 1996;13:141-2.
    • (1996) Nature Genet , vol.13 , pp. 141-142
    • Azuma, N.1    Nishina, S.2
  • 4
    • 0028308664 scopus 로고
    • Mutations at the PAX 6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • Hanson IM, Fletcher J, Jordan T, Brown A, Taylor D, Adams R, et al. Mutations at the PAX 6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet 1994;6:168-73.
    • (1994) Nature Genet , vol.6 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.2    Jordan, T.3    Brown, A.4    Taylor, D.5    Adams, R.6
  • 5
    • 26344466609 scopus 로고    scopus 로고
    • Missense mutation in the PAX 6 gene in a family with anterior segment anomalies
    • Azuma N, Nishina S, Yamada M. Missense mutation in the PAX 6 gene in a family with anterior segment anomalies. Invest Ophthalmol Vis Sci (Suppl) 1997;38:A117.
    • (1997) Invest Ophthalmol Vis Sci (Suppl) , vol.38
    • Azuma, N.1    Nishina, S.2    Yamada, M.3
  • 6
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutations in the human PAX 6 gene
    • Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX 6 gene. Nature Genet 1992;2:232-9.
    • (1992) Nature Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.L.3
  • 7
    • 0029097307 scopus 로고
    • Mutation of the PAX 6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA. Mutation of the PAX 6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995;57:539-48.
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 8
    • 0006122842 scopus 로고    scopus 로고
    • Novel Pax 6 homeodomain mutations in congenital aniridia and identification of a new alternative splicing of PAX 6 mRNA
    • Calvas P, Rozet J-M, Gerber S, Munnich A, Kaplan J. Novel Pax 6 homeodomain mutations in congenital aniridia and identification of a new alternative splicing of PAX 6 mRNA. Am J Hum Genet (Suppl) 1996;59:A394.
    • (1996) Am J Hum Genet (Suppl) , vol.59
    • Calvas, P.1    Rozet, J.-M.2    Gerber, S.3    Munnich, A.4    Kaplan, J.5
  • 9
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-16.
    • (1993) Hum Mutat , vol.2 , pp. 338-416
    • Hayashi, K.1    Yandell, D.W.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.