Correa-Cerro, L S <br/><br/>
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.  [electronic resource] 

 -  Journal of medical genetics  Apr 2005 
 - 350-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2004.022749  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Cells, Cultured<br/>Cholesterol--metabolism<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genotype<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Oxidoreductases Acting on CH-CH Group Donors--genetics<br/>Phenotype<br/>Pregnancy<br/>RNA, Messenger--metabolism<br/>Smith-Lemli-Opitz Syndrome--blood