Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. [electronic resource]
Producer: 20100819Description: 1094-9 p. digitalISSN:- 1468-2079
- Adult
- Base Sequence
- Chromosomes, Human, Pair 2 -- genetics
- Codon, Nonsense
- Electroretinography
- Female
- Genetic Linkage
- Genotype
- Humans
- Lod Score
- Male
- Middle Aged
- Pedigree
- Proto-Oncogene Proteins -- genetics
- Receptor Protein-Tyrosine Kinases -- genetics
- Retinitis Pigmentosa -- genetics
- Visual Acuity
- c-Mer Tyrosine Kinase
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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