Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. [electronic resource]
Producer: 20110329Description: 201-6 p. digitalISSN:- 1537-6605
- Alkyl and Aryl Transferases -- genetics
- Animals
- Dolichols -- analogs & derivatives
- Exons -- genetics
- Female
- Genes, Dominant
- Genetic Variation -- genetics
- Glycosylation
- Humans
- Male
- Mutation -- genetics
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Retinitis Pigmentosa -- genetics
- Rhodopsin -- genetics
- Sequence Analysis, DNA
- Zebrafish -- genetics
- Zebrafish Proteins -- antagonists & inhibitors
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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