Nemethova, Martina <br/><br/>
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jan 2016 
 - 66-72 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2015.60  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alkaptonuria--diagnosis<br/>Base Sequence<br/>Bone Diseases, Metabolic--diagnosis<br/>Bone and Bones--enzymology<br/>Catalytic Domain<br/>Databases, Genetic<br/>Exons<br/>Female<br/>Gene Expression<br/>Genetic Heterogeneity<br/>Homogentisate 1,2-Dioxygenase--chemistry<br/>Humans<br/>Introns<br/>Italy<br/>Male<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Protein Structure, Secondary<br/>Sequence Analysis, DNA