Lindert, Uschi <br/><br/>
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.  [electronic resource] 

 -  Nature communications  07 2016 
 - 11920 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/ncomms11920  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Activating Transcription Factor 6--genetics<br/>Adult<br/>Aged<br/>Cell Differentiation<br/>Cell Membrane--metabolism<br/>Collagen Type I--deficiency<br/>Cyclic AMP Response Element-Binding Protein--genetics<br/>Gene Expression Regulation<br/>Genes, Recessive<br/>Humans<br/>Hydroxylation<br/>Male<br/>Metalloendopeptidases--genetics<br/>Middle Aged<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Osteoblasts--metabolism<br/>Osteogenesis Imperfecta--genetics<br/>Pedigree<br/>Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase--genetics<br/>Proteolysis<br/>Severity of Illness Index<br/>Sterol Regulatory Element Binding Proteins--genetics