Job, Florian <br/><br/>
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.  [electronic resource] 

 -  BMC medical genetics  Nov 2016 
 - 86 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-016-0344-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bone Diseases, Metabolic--genetics<br/>Child, Preschool<br/>DNA--chemistry<br/>Fractures, Bone--genetics<br/>Genetic Variation<br/>Genotype<br/>Glucuronosyltransferase--genetics<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Recombinant Proteins--biosynthesis