IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. [electronic resource]
Producer: 20150112Description: 3307-15 p. digitalISSN:- 1460-2083
- Adolescent
- Amino Acid Sequence
- Animals
- Bardet-Biedl Syndrome -- enzymology
- Consanguinity
- Evolution, Molecular
- Exome
- Female
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Models, Molecular
- Monomeric GTP-Binding Proteins -- chemistry
- Pedigree
- Point Mutation
- Saudi Arabia
- Sequence Alignment
- Zebrafish
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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