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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
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Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993 Jun; 4(2):130-4.
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PubMed
subject areas
3',5'-Cyclic-GMP Phosphodiesterases
Amino Acid Sequence
Animals
Base Sequence
Codon
Cyclic Nucleotide Phosphodiesterases, Type 6
Disease Models, Animal
DNA Mutational Analysis
DNA, Single-Stranded
Dog Diseases
Dogs
Electroretinography
Eye Proteins
Female
Genes, Recessive
Humans
Male
Mice
Mice, Mutant Strains
Molecular Sequence Data
Mutation
Nucleic Acid Conformation
Pedigree
Phosphoric Diester Hydrolases
Photoreceptor Cells
Polymorphism, Genetic
Retinal Degeneration
Retinal Dysplasia
Retinitis Pigmentosa
Rhodopsin
Signal Transduction
authors with profiles
Thaddeus Peter Dryja, M.D.