Schmidt, Wolfgang M <br/><br/>
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.  [electronic resource] 

 -  American journal of human genetics  Dec 2015 
 - 855-61 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2015.10.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Vesicular Transport<br/>Adolescent<br/>Base Sequence<br/>Cerebellar Ataxia--genetics<br/>DNA-Binding Proteins<br/>Exome<br/>Female<br/>Gene Expression<br/>Hepatolenticular Degeneration--genetics<br/>Heterozygote<br/>Humans<br/>Liver Failure--genetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Peripheral Nervous System Diseases--genetics<br/>Sequence Analysis, DNA<br/>Syndrome<br/>Transcription Factors--genetics<br/>Young Adult