Article
Mutations in the Norrie disease gene.
Human mutation - 1 Jan 1995
Schuback D E, Chen Z Y, Craig I W, Breakefield X O, Sims K B
Abstract excerpt
We report our experience to date in mutation identification in the Norrie disease (ND) gene. We carried out mutational analysis in 26 kindreds in an attempt to identify regions presumed critical to protein function and potentially correlated with generation of the disease phenotype. All coding exons, as well as noncoding regions of exons 1 and 2, 636 nucleotides in the noncoding region of exon 3, and 197...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.