Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. [electronic resource]
Producer: 20160322Description: 855-61 p. digitalISSN:- 1537-6605
- Adaptor Proteins, Vesicular Transport
- Adolescent
- Base Sequence
- Cerebellar Ataxia -- genetics
- DNA-Binding Proteins
- Exome
- Female
- Gene Expression
- Hepatolenticular Degeneration -- genetics
- Heterozygote
- Humans
- Liver Failure -- genetics
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Peripheral Nervous System Diseases -- genetics
- Sequence Analysis, DNA
- Syndrome
- Transcription Factors -- genetics
- 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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