Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). [electronic resource]
Producer: 19940621Description: 145-8 p. digitalISSN:- 0888-7543
- 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
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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