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

Axton, R; Hanson, I; Danes, S; Sellar, G; van Heyningen, V; Prosser, J

Axton, R; Hanson, I; Danes, S; Sellar, G; van Heyningen, V; Prosser, J.

Affiliation

Axton R; MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

J Med Genet ; 34(4): 279-86, 1997 Apr.

Article in En | MEDLINE | ID: mdl-9138149

Subject(s)

Aniridia/genetics; DNA-Binding Proteins/genetics; Homeodomain Proteins; Mutation; Transcription Factors/genetics; DNA/metabolism; Eye Proteins; Female; Gene Frequency; Humans; Male; PAX6 Transcription Factor; Paired Box Transcription Factors; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; RNA Splicing; Repressor Proteins

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Aniridia / Homeodomain Proteins / DNA-Binding Proteins / Mutation Type of study: Diagnostic_studies / Incidence_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 1997 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google