Literature DB >> 15090434

A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.

Y Nanjo, S Kawasaki, K Mori, C Sotozono, T Inatomi, S Kinoshita.   

Abstract

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Year:  2004        PMID： 15090434      PMCID： PMC1772122          DOI： 10.1136/bjo.2003.034769

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  5 in total

1.  PAX6 missense mutation in isolated foveal hypoplasia.

Authors:  N Azuma; S Nishina; H Yanagisawa; T Okuyama; M Yamada
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

3.  Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

Authors:  J A Epstein; T Glaser; J Cai; L Jepeal; D S Walton; R L Maas
Journal:  Genes Dev       Date:  1994-09-01       Impact factor: 11.361

4.  Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

Authors:  N Azuma; Y Yamaguchi; H Handa; M Hayakawa; A Kanai; M Yamada
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Authors:  I M Hanson; J M Fletcher; T Jordan; A Brown; D Taylor; R J Adams; H H Punnett; V van Heyningen
Journal:  Nat Genet       Date:  1994-02       Impact factor: 38.330
  5 in total
  5 in total

1.  Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Authors:  Mukesh Tanwar; Tanuj Dada; Rima Dada
Journal:  Case Rep Med       Date:  2010-08-09

Review 2.  Corneal transparency: genesis, maintenance and dysfunction.

Authors:  Yureeda Qazi; Gilbert Wong; Bryan Monson; Jack Stringham; Balamurali K Ambati
Journal:  Brain Res Bull       Date:  2009-05-27       Impact factor: 4.077

Review 3.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

4.  Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma.

Authors:  Ji Hyun Lee; Chang-Seok Ki; Hee-Jung Kim; Wool Suh; Seung-Tae Lee; Jong-Won Kim; Changwon Kee
Journal:  Mol Vis       Date:  2011-12-31       Impact factor: 2.367

Review 5.  The genetic architecture of aniridia and Gillespie syndrome.

Authors:  Hildegard Nikki Hall; Kathleen A Williamson; David R FitzPatrick
Journal:  Hum Genet       Date:  2018-09-22       Impact factor: 4.132
  5 in total

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