Kulseth, Mari Ann <br/><br/>
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.  [electronic resource] 

 -  European journal of medical genetics   
 - 130-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2010.10.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Line<br/>DNA Mutational Analysis--methods<br/>Exons<br/>Hedgehog Proteins--genetics<br/>Holoprosencephaly--genetics<br/>Humans<br/>Introns--genetics<br/>Male<br/>Point Mutation<br/>RNA Splicing<br/>Transfection