Ferreira, Susana <br/><br/>
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.  [electronic resource] 

 -  Molecular genetics and metabolism  Feb 2015 
 - 248-58 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2014.11.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Amino Acid Substitution<br/>Codon--genetics<br/>Fabry Disease--complications<br/>Family Health<br/>Female<br/>Gene Frequency<br/>Genotype<br/>Humans<br/>Kidney--pathology<br/>Male<br/>Middle Aged<br/>Molecular Structure<br/>Mutation<br/>Phenotype<br/>alpha-Galactosidase--genetics