Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. [electronic resource]
Producer: 20071011Description: 4308-14 p. digitalISSN:- 0146-0404
- ATP-Binding Cassette Transporters -- genetics
- Adolescent
- Adult
- Alternative Splicing
- Child
- Child, Preschool
- DNA Mutational Analysis
- Disease Progression
- Female
- Fluorescein Angiography
- Founder Effect
- Germ-Line Mutation
- Haplotypes
- Homozygote
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Retina -- physiopathology
- Retinal Degeneration -- diagnosis
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Deletion
- Visual Acuity
- Visual Fields
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.