WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. [electronic resource]
Producer: 20140221Description: 150-9 p. digitalISSN:- 1399-0004
- Adolescent
- Adult
- Child
- Child, Preschool
- Ciliopathies
- Consanguinity
- Cytoskeletal Proteins
- Exome
- Female
- Genes, Recessive
- Genetic Association Studies
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Intracellular Signaling Peptides and Proteins
- Kidney Diseases, Cystic -- genetics
- Leber Congenital Amaurosis -- genetics
- Male
- Mutation
- Optic Atrophies, Hereditary -- genetics
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide
- Proteins -- genetics
- Retinitis Pigmentosa -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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