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Aniridia Genetics

OMIM PAX6 Notes

PAX6 Mutation as a genetic factor common to aniridia and glucose intolerance

Phenotypic Variability in a Large Aniridia Pedigree with a Novel PAX6 1410delC Mutation.
J.L. Dickinson et al

The predictive value of FISH analyses for possible occurrence of Wilms tumor in aniridia patients with/without chromosome abnormalities around 11p13
R. Muto et al

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases

Identification of two novel PAX6 gene mutations in patients with aniridia using SSCP and CFLP analyses.
L. O. Maddox et al

library detail for gene group 1121

The Faculty of Medicine at the University of New South Wales - NiceProt View of SWISS-PROT: P26367

UK Human Genome Mapping Project Resource Centre

Homepage

Major MRC Investment in Mouse Sequencing

researching PAX6 aniridia

Veronica van Heyningen
PAX6 and Related Genes in Development Disease and Evolution

PAX6 and Related Genes in Development, Disease, and Evolution Summary.

Human Genome Meeting 2001 Edinbourgh

Aniridia-associated translocations and transgenic analysis define a distant downstream regulatory region for PAX6 Poster

Aniridia-associated translocations and transgenic analysis define a distant downstream regulatory region for PAX6 Workshop

Human PAX6 Allelic Variant Database

Table of Compound Allelic

Table of Insertions

Nucleic Acids Research - Human PAX6 Allelic Variant Database

The University of Edinburgh

Medical Genetics Section
PAX6 in human eye development and disease

Communications and Public Affairs
Lessons from imperfect miracles

University College London

The Galton Laboratory UCL

Mouse neurological mutants and homologous human disorders

Wellcome Trust Cambridge University - Cloning and gene regulation

Wellcome Trust - Models and mechanisms: Worm

Birkbeck University of London EyeSite - PAIRED HOMEOBOX FAMILY Family Paired Box Protein Pax-6 {ANIRIDIA} CRX cone-rod {CONE-ROD DYSTROPHY}

Institute of Child healthPAX genes

Iris FundGenetic Regulators of Drosphila Eye Development: Vertebrate Homologues in Development and Disease

Nottingham Trent University Faculty of Science & Land-based Studies - The CH 4 : BIOLOGICAL AND MEDICAL EFFECTS

Human Gene Mutation Database Cardiff PAX6

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