Zaidi, Syed H E <br/><br/>
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.  [electronic resource] 

 -  European journal of pediatrics  Jul 2009 
 - 867-70 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1432-1076 
<br/><br/><label>Standard No.: </label>10.1007/s00431-008-0839-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Arteries--abnormalities<br/>Codon, Nonsense<br/>Connective Tissue--abnormalities<br/>DNA Mutational Analysis<br/>Female<br/>Genes, Recessive<br/>Glucose Transport Proteins, Facilitative--deficiency<br/>Hip Dislocation--genetics<br/>Humans<br/>Infant<br/>Pedigree<br/>Phenotype<br/>Stomach--abnormalities<br/>Syndrome