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Volumn 12, Issue 2, 1998, Pages 128-134

A new set of primers for mutation analysis of the human PAX6 gene

Author keywords

Aniridia; Mutations; PAX6; SSCP

Indexed keywords

ANIRIDIA; ARTICLE; DATA ANALYSIS; DNA DETERMINATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTRON; OPEN READING FRAME; PRIORITY JOURNAL;

EID: 0031801550     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N     Document Type: Article
Times cited : (37)

References (19)
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    • (1997) J Med Genet , vol.34 , pp. 279-286
    • Axton, R.1    Hanson, I.2    Danes, S.3    Sellar, G.4    Van Heyningen, V.5    Prosser, J.6
  • 6
    • 0027715021 scopus 로고
    • Mutations in Pax6 gene in patients with hereditary aniridia
    • Davis J, Cowell D (1993) Mutations in Pax6 gene in patients with hereditary aniridia. Hum Mol Genet 2:2093-2097.
    • (1993) Hum Mol Genet , vol.2 , pp. 2093-2097
    • Davis, J.1    Cowell, D.2
  • 7
    • 0026949405 scopus 로고
    • Genomic structure, evolutionary conservation and aniridia mutations in the human Pax6 gene
    • Glaser T, Walton DS, Maas RL (1992) Genomic structure, evolutionary conservation and aniridia mutations in the human Pax6 gene. Nature Genet 2:232-239.
    • (1992) Nature Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.S.2    Maas, R.L.3
  • 8
    • 0028074973 scopus 로고
    • PAX6 gene dosage effects in a family with a congenital cataracts, aniridia, anophthalmia and central nervous system defects
    • Glaser T, Jepeal L, Edwards YG, Young SR, Favor J, Maas RL (1994) PAX6 gene dosage effects in a family with a congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet 7:463-471.
    • (1994) Nature Genet , vol.7 , pp. 463-471
    • Glaser, T.1    Jepeal, L.2    Edwards, Y.G.3    Young, S.R.4    Favor, J.5    Maas, R.L.6
  • 9
    • 0029054291 scopus 로고
    • Pax6. More than meets the eye
    • Hanson I, van Heyningen V (1995) Pax6. More than meets the eye. Trends Genet 11:268-272.
    • (1995) Trends Genet , vol.11 , pp. 268-272
    • Hanson, I.1    Van Heyningen, V.2
  • 12
    • 0029011946 scopus 로고
    • A new PAX6 mutation in familial aniridia
    • Hanson I, Brown A, van Heyningen V (1995) A new PAX6 mutation in familial aniridia. J Med Genet 32.488-489.
    • (1995) J Med Genet , vol.32 , pp. 488-489
    • Hanson, I.1    Brown, A.2    Van Heyningen, V.3
  • 13
    • 0028294152 scopus 로고
    • Paired box mutations in familial and sporadic aniridia patients predict truncated aniridia proteins
    • Martha A, Ferrell RE, Mintz-Hittner H, Lyons LA, Saunders GF (1994) Paired box mutations in familial and sporadic aniridia patients predict truncated aniridia proteins. Am J Hum Genet 54:801-811.
    • (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
  • 15
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA (1995) Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 57.539-548.
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.