Ozelsancak, Ruya <br/><br/>
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.  [electronic resource] 

 -  The American journal of case reports  May 2016 
 - 315-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1941-5923 
<br/><br/><label>Standard No.: </label>10.12659/ajcr.897024  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Codon, Nonsense<br/>Fabry Disease--genetics<br/>Glomerulosclerosis, Focal Segmental--etiology<br/>Humans<br/>Male<br/>Pedigree<br/>Phenotype<br/>alpha-Galactosidase--genetics