Johnston, Jennifer J <br/><br/>
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.  [electronic resource] 

 -  American journal of human genetics  Sep 2015 
 - 465-74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2015.07.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acro-Osteolysis--genetics<br/>DNA, Complementary--genetics<br/>Female<br/>Genes, Dominant--genetics<br/>HeLa Cells<br/>Humans<br/>Limb Deformities, Congenital--genetics<br/>Male<br/>Mutation, Missense--genetics<br/>Phosphorylation<br/>Point Mutation--genetics<br/>Progeria--genetics<br/>Receptor, Platelet-Derived Growth Factor beta--genetics<br/>Signal Transduction--genetics<br/>Time Factors