AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. [electronic resource]
Producer: 20060509Description: 527-34 p. digitalISSN:- 0364-5134
- Adaptor Proteins, Signal Transducing -- genetics
- Adaptor Proteins, Vesicular Transport
- Adolescent
- Adult
- Animals
- Brain Diseases -- diagnosis
- Brain Stem -- pathology
- Child
- Child, Preschool
- Chromosome Disorders -- genetics
- DNA Mutational Analysis -- methods
- Developmental Disabilities -- genetics
- Family Health
- Female
- Gene Frequency
- Humans
- Infant
- Magnetic Resonance Imaging -- methods
- Male
- Models, Molecular
- Mutation
- Polymorphism, Genetic
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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