Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.

Sale, Michèle M

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. [electronic resource] - Human mutation Oct 2002 - 322 p. digital

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

1098-1004

10.1002/humu.9066 doi


Aniridia--genetics
Cytosine
DNA Mutational Analysis
Eye Proteins--genetics
Female
Genetic Variation--genetics
Homeodomain Proteins--genetics
Humans
Male
Mutation--genetics
PAX6 Transcription Factor
Paired Box Transcription Factors
Pedigree
Phenotype
Repressor Proteins--genetics
Sequence Deletion--genetics
Transcription Factors--genetics