Knaus, Alexej <br/><br/>
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.  [electronic resource] 

 -  Human mutation  08 2016 
 - 737-44 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>3' Untranslated Regions<br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Carboxylic Ester Hydrolases<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Female<br/>Genetic Predisposition to Disease<br/>Humans<br/>Intellectual Disability--genetics<br/>Introns<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Phosphorus Metabolism Disorders--genetics<br/>Polymorphism, Single Nucleotide<br/>RNA, Messenger--genetics<br/>Receptors, Cell Surface--genetics<br/>Sequence Analysis, DNA--methods<br/>Young Adult