Glaser, T

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). [electronic resource] - Genomics Jan 1994 - 145-8 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

0888-7543

10.1006/geno.1994.1024 doi


Alleles
Aniridia--classification
Base Sequence
Brazil
Cerebellar Ataxia--genetics
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Eye Proteins
Female
Genes
Homeodomain Proteins
Humans
Intellectual Disability--genetics
Male
Molecular Sequence Data
Northern Ireland
PAX6 Transcription Factor
Paired Box Transcription Factors
Pedigree
Polymorphism, Genetic
Repressor Proteins
Syndrome