Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Gal, A

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. [electronic resource] - Nature genetics Nov 2000 - 270-1 p. digital

Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1061-4036

10.1038/81555 doi


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