Jaakkola, E <br/><br/>
ERCC6 founder mutation identified in Finnish patients with COFS syndrome.  [electronic resource] 

 -  Clinical genetics  Dec 2010 
 - 541-7 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/j.1399-0004.2010.01424.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Base Sequence<br/>Cataract--genetics<br/>Child, Preschool<br/>Cockayne Syndrome--genetics<br/>Consanguinity<br/>DNA Helicases--genetics<br/>DNA Mutational Analysis<br/>DNA Repair Enzymes--genetics<br/>Finland<br/>Humans<br/>Male<br/>Microcephaly--genetics<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>Poly-ADP-Ribose Binding Proteins<br/>Syndrome