Lin, T <br/><br/>
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.  [electronic resource] 

 -  American journal of human genetics  Jun 1997 
 - 1384-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/515471  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Cells, Cultured<br/>Conserved Sequence<br/>Exons<br/>Fibroblasts<br/>Frameshift Mutation<br/>Golgi Apparatus--enzymology<br/>Humans<br/>Lymphocytes<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Oculocerebrorenal Syndrome--genetics<br/>Phosphoric Monoester Hydrolases--chemistry<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Polymorphism, Single-Stranded Conformational<br/>Protein Biosynthesis<br/>Proteins--chemistry<br/>Sequence Alignment<br/>Sequence Deletion