Regular ArticleCombined SSCP/heteroduplex analysis in the screening for PAX6 mutations
References (19)
- et al.
The sensitivity of single-stranded conformation polymorphism analysis for the detection of single base substitutions
Genomics
(1993) - et al.
Pax6: more than meets the eye
Trends in Genetics
(1995) - et al.
Crystal structure of a paired domain-DNA complex at 2.5 Å resolution reveals structural basis for Pax developmental mutations
Cell
(1995) - et al.
Positional cloning and characterization of a paired box- and homeobox containing gene from the aniridia region
Cell
(1991) - et al.
Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms
Proceedings of the National Academy of Sciences, USA
(1989) - et al.
A PCR artifact: generation of heteroduplexes
American Journal of Human Genetics
(1989) - et al.
Protein truncation test (PTT) for rapid detection of translation-terminating mutations
Human Molecular Genetics
(1993) - et al.
Detection of point mutations in the p53 gene: comparison of single-stranded conformation polymorphism, constant denaturing gel electrophoresis, and hydroxylamine and osmium tetroxide techniques
Human Mutation
(1993) - et al.
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
Journal of Medical Genetics
(1997)
There are more references available in the full text version of this article.
Cited by (30)
The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype–Genotype Discordance
2019, Ophthalmology RetinaCitation Excerpt :Importantly, the poor association between iris and foveal hypoplasia underscores the importance of a thorough ocular examination for all members of families with aniridia, even those who initially seem unaffected. The IVS2-delA mutation, found in all 8 participants with aniridia, affects splicing in the 5′ untranslated region of the PAX6 gene, probably excluding exon 3, but the effect on protein translation is unknown.35,36 The mutation, reported in the PAX6 Allelic Variant Database, segregates with aniridia in a United Kingdom family and 2 sporadic cases in Russia and Germany.3
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
2023, Journal of Medical GeneticsMinigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
2023, International Journal of Molecular SciencesActivation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
2022, Journal of Medical GeneticsUpstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia
2021, Human Mutation
Copyright © 1997 Academic Press. All rights reserved.