Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. [electronic resource]
Producer: 20170613Description: 86-91 p. digitalISSN:- 1399-0004
- Adult
- Amino Acid Sequence
- Binding Sites -- genetics
- Child
- Exome -- genetics
- Family Health
- Female
- Genetic Predisposition to Disease -- genetics
- Humans
- Inositol 1,4,5-Trisphosphate Receptors -- genetics
- Lectins, C-Type -- metabolism
- Male
- Membrane Proteins -- metabolism
- Middle Aged
- Mutation
- Pedigree
- Sequence Analysis, DNA -- methods
- Sequence Homology, Amino Acid
- Spinocerebellar Ataxias -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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