KIAA0586 is Mutated in Joubert Syndrome. [electronic resource]
Producer: 20160510Description: 831-5 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Adult
- Alternative Splicing
- Brain -- pathology
- Cell Cycle Proteins -- genetics
- Cerebellum -- abnormalities
- Child
- Child, Preschool
- DNA Mutational Analysis
- Eye Abnormalities -- diagnosis
- Gene Order
- Genetic Association Studies
- Humans
- Kidney Diseases, Cystic -- diagnosis
- Magnetic Resonance Imaging
- Mutation
- Phenotype
- Retina -- abnormalities
- Young Adult
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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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