Tajouri, Asma <br/><br/>
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.  [electronic resource] 

 -  Human mutation  12 2018 
 - 2097-2109 p.  digital 
<br/><br/> Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23664  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Child, Preschool<br/>Drosophila Proteins--chemistry<br/>Drosophila melanogaster<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Gonadal Dysgenesis, 46,XY--genetics<br/>Hedgehog Proteins--chemistry<br/>Heterozygote<br/>Humans<br/>Male<br/>Mutation<br/>Protein Domains<br/>Proteolysis<br/>Species Specificity<br/>Young Adult