TY  - GEN
AU  - Schmidt,Wolfgang M
AU  - Rutledge,S Lane
AU  - Schüle,Rebecca
AU  - Mayerhofer,Benjamin
AU  - Züchner,Stephan
AU  - Boltshauser,Eugen
AU  - Bittner,Reginald E
TI  - Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
SN  - 1537-6605
PY  - 2016///0322
KW  - Adaptor Proteins, Vesicular Transport
KW  - Adolescent
KW  - Base Sequence
KW  - Cerebellar Ataxia
KW  - genetics
KW  - DNA-Binding Proteins
KW  - Exome
KW  - Female
KW  - Gene Expression
KW  - Hepatolenticular Degeneration
KW  - Heterozygote
KW  - Humans
KW  - Liver Failure
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Peripheral Nervous System Diseases
KW  - Sequence Analysis, DNA
KW  - Syndrome
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2015.10.011
ER  -