Literature DB >> 9281415

Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.

R A Axton1, I M Hanson, J Love, A Seawright, J Prosser, V van Heyningen.   

Abstract

We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described..

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Year:  1997        PMID: 9281415     DOI: 10.1006/mcpr.1997.0117

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN: 0890-8508            Impact factor:   2.365


  6 in total

1.  The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.

Authors:  Hilde R Pedersen; Maureen Neitz; Stuart J Gilson; Erlend C S Landsend; Øygunn Aas Utheim; Tor Paaske Utheim; Rigmor C Baraas
Journal:  Ophthalmol Retina       Date:  2019-02-05

2.  Implication of non-coding PAX6 mutations in aniridia.

Authors:  Julie Plaisancié; M Tarilonte; P Ramos; C Jeanton-Scaramouche; V Gaston; H Dollfus; D Aguilera; J Kaplan; L Fares-Taie; F Blanco-Kelly; C Villaverde; C Francannet; A Goldenberg; I Arroyo; J M Rozet; C Ayuso; N Chassaing; P Calvas; M Corton
Journal:  Hum Genet       Date:  2018-10-05       Impact factor: 4.132

3.  Assessment of hepatitis C virus sequence complexity by electrophoretic mobilities of both single-and double-stranded DNAs.

Authors:  Y M Wang; S C Ray; O Laeyendecker; J R Ticehurst; D L Thomas
Journal:  J Clin Microbiol       Date:  1998-10       Impact factor: 5.948

4.  Three novel PAX6 mutations in patients with aniridia.

Authors:  W Zumkeller; U Orth; A Gal
Journal:  Mol Pathol       Date:  2003-06

5.  Ramified feline microglia selects for distinct variants of feline immunodeficiency virus during early central nervous system infection.

Authors:  Andreas Hein; Holger Schuh; Simone Thiel; Jean-Pierre Martin; Rüdiger Dörries
Journal:  J Neurovirol       Date:  2003-08       Impact factor: 2.643

Review 6.  The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Authors:  Dulce Lima Cunha; Gavin Arno; Marta Corton; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2019-12-17       Impact factor: 4.096

  6 in total

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