Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. [electronic resource]
Producer: 20080506Description: 481-6 p. digitalISSN:- 1090-0535
- Adult
- Aged
- Base Sequence
- Blindness -- genetics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Electroretinography
- Exons -- genetics
- Eye Proteins -- genetics
- Female
- Fundus Oculi
- Humans
- Infant
- Male
- Microtubule-Associated Proteins -- genetics
- Middle Aged
- Molecular Sequence Data
- Mutation -- genetics
- Optic Atrophy, Hereditary, Leber -- genetics
- RNA Splice Sites -- genetics
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Publication Type: Case Reports; Journal Article
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