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Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
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Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Ophthalmology. 1997 Feb; 104(2):299-306.
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PubMed
subject areas
Adult
Aged
DNA
Electrophoresis, Agar Gel
Electroretinography
Eye Proteins
Fundus Oculi
Humans
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Nerve Tissue Proteins
Pedigree
Peripherins
Phenylalanine
Point Mutation
Polymerase Chain Reaction
Retinal Cone Photoreceptor Cells
Retinal Degeneration
Sequence Analysis
Serine
Visual Fields
authors with profiles
Kenneth Alexander