Sohn, Mira <br/><br/>
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.  [electronic resource] 

 -  Proceedings of the National Academy of Sciences of the United States of America  Apr 2016 
 - 4314-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1091-6490 
<br/><br/><label>Standard No.: </label>10.1073/pnas.1525719113  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--enzymology<br/>Bone Diseases, Developmental--enzymology<br/>Cell Membrane--enzymology<br/>Endoplasmic Reticulum--enzymology<br/>Golgi Apparatus--enzymology<br/>HEK293 Cells<br/>Humans<br/>Intellectual Disability--enzymology<br/>Minor Histocompatibility Antigens<br/>Mutation<br/>Nitrogenous Group Transferases--genetics<br/>Phosphatidylinositol Phosphates--genetics<br/>Phosphotransferases (Alcohol Group Acceptor)--genetics