Couto, Ana R <br/><br/>
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.  [electronic resource] 

 -  Calcified tissue international  Aug 2007 
 - 81-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0171-967X 
<br/><br/><label>Standard No.: </label>10.1007/s00223-007-9043-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Azores<br/>Base Sequence--genetics<br/>Bone and Bones--diagnostic imaging<br/>Codon, Nonsense--genetics<br/>DNA--blood<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins<br/>Exons--genetics<br/>Female<br/>Genetic Markers--genetics<br/>Genetic Predisposition to Disease--genetics<br/>Genetic Testing<br/>Genotype<br/>Heterozygote<br/>Humans<br/>Ireland<br/>Male<br/>Melorheostosis--genetics<br/>Membrane Proteins--genetics<br/>Mutation--genetics<br/>Nuclear Proteins--genetics<br/>Osteopoikilosis--genetics<br/>Pedigree<br/>Radiography