Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. [electronic resource]
Producer: 20001213Description: 270-1 p. digitalISSN:- 1061-4036
- Adult
- Amino Acid Substitution
- Animals
- Chromosomes, Human, Pair 2 -- genetics
- Cloning, Molecular
- Codon -- genetics
- Consanguinity
- DNA Mutational Analysis
- Disease Models, Animal
- Exons -- genetics
- Eye Proteins -- genetics
- Female
- Frameshift Mutation
- Genes, Recessive
- Humans
- Introns -- genetics
- Male
- Middle Aged
- Mutation, Missense
- Phagocytosis
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Proto-Oncogene Proteins
- RNA Splice Sites -- genetics
- Rats
- Rats, Inbred Strains -- genetics
- Receptor Protein-Tyrosine Kinases -- deficiency
- Retinal Degeneration -- enzymology
- Retinitis Pigmentosa -- enzymology
- Rod Cell Outer Segment -- pathology
- Rodent Diseases -- enzymology
- Sequence Deletion
- Species Specificity
- Terminator Regions, Genetic -- genetics
- c-Mer Tyrosine Kinase
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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