Jansen, Jos C <br/><br/>
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.  [electronic resource] 

 -  American journal of human genetics  Feb 2016 
 - 322-30 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2015.12.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alkaline Phosphatase--metabolism<br/>Amino Acid Sequence<br/>Ceruloplasmin--metabolism<br/>Cholesterol--metabolism<br/>Endoplasmic Reticulum--metabolism<br/>Exome<br/>Fibroblasts--metabolism<br/>Genotype<br/>Glycosylation<br/>Golgi Apparatus--genetics<br/>Homeostasis<br/>Humans<br/>Male<br/>Membrane Proteins--deficiency<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>Transaminases--metabolism<br/>Young Adult