Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. [electronic resource]
Producer: 20071023Description: 1568-72 p. digitalISSN:- 1090-0535
- ATP-Binding Cassette Transporters -- genetics
- Adenine
- Adult
- Cytosine
- Female
- Fundus Oculi
- Genes, Recessive
- Humans
- Macula Lutea
- Male
- Middle Aged
- Mutation, Missense
- Nystagmus, Pathologic -- etiology
- Pedigree
- Phenotype
- Retinal Degeneration -- genetics
- Retinitis Pigmentosa -- complications
- Severity of Illness Index
- Thymine
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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