TY  - GEN
AU  - Gal,A
AU  - Li,Y
AU  - Thompson,D A
AU  - Weir,J
AU  - Orth,U
AU  - Jacobson,S G
AU  - Apfelstedt-Sylla,E
AU  - Vollrath,D
TI  - Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
SN  - 1061-4036
PY  - 2000///1213
KW  - Adult
KW  - Amino Acid Substitution
KW  - Animals
KW  - Chromosomes, Human, Pair 2
KW  - genetics
KW  - Cloning, Molecular
KW  - Codon
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Disease Models, Animal
KW  - Exons
KW  - Eye Proteins
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Recessive
KW  - Humans
KW  - Introns
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Phagocytosis
KW  - Point Mutation
KW  - Polymorphism, Single-Stranded Conformational
KW  - Proto-Oncogene Proteins
KW  - RNA Splice Sites
KW  - Rats
KW  - Rats, Inbred Strains
KW  - Receptor Protein-Tyrosine Kinases
KW  - deficiency
KW  - Retinal Degeneration
KW  - enzymology
KW  - Retinitis Pigmentosa
KW  - Rod Cell Outer Segment
KW  - pathology
KW  - Rodent Diseases
KW  - Sequence Deletion
KW  - Species Specificity
KW  - Terminator Regions, Genetic
KW  - c-Mer Tyrosine Kinase
N1  - Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/81555
ER  -