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