Vissers, Lisenka E L M <br/><br/>
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.  [electronic resource] 

 -  American journal of human genetics  May 2011 
 - 608-15 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2011.04.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Bone Diseases, Developmental--enzymology<br/>Female<br/>Golgi Apparatus--enzymology<br/>Homozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Joint Diseases--enzymology<br/>Limb Deformities, Congenital--pathology<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Nucleotides--metabolism<br/>Phenotype<br/>Phosphoric Monoester Hydrolases--genetics<br/>Protein Structure, Quaternary<br/>Proteoglycans--metabolism<br/>Sulfotransferases--metabolism<br/>Young Adult