Ciara, E <br/><br/>
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.  [electronic resource] 

 -  European journal of medical genetics   
 - 499-504 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1769-7212 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2006.01.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Substitution<br/>Female<br/>Genes, Recessive<br/>Genetic Testing<br/>Heterozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Neonatal Screening<br/>Oxidoreductases Acting on CH-CH Group Donors--genetics<br/>Point Mutation<br/>Poland--epidemiology<br/>Smith-Lemli-Opitz Syndrome--enzymology