Miyake, Noriko <br/><br/>
PAPSS2 mutations cause autosomal recessive brachyolmia.  [electronic resource] 

 -  Journal of medical genetics  Aug 2012 
 - 533-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-101039  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Asian People<br/>Case-Control Studies<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Genes, Recessive<br/>Genetic Heterogeneity<br/>Genetic Loci<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Heterozygote<br/>Humans<br/>Multienzyme Complexes--genetics<br/>Mutation<br/>Osteochondrodysplasias--diagnostic imaging<br/>Pedigree<br/>Phenotype<br/>Radiography<br/>Sulfate Adenylyltransferase--genetics<br/>TRPV Cation Channels--genetics<br/>Turkey