Pace, J M <br/><br/>
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.  [electronic resource] 

 -  Human mutation  Oct 2001 
 - 319-26 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.1193  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Motifs<br/>Collagen Type I--chemistry<br/>DNA Mutational Analysis<br/>Exons<br/>Fibroblasts<br/>Humans<br/>Mutation--genetics<br/>Osteogenesis Imperfecta--genetics<br/>Phenotype<br/>Protein Structure, Secondary<br/>Protein Structure, Tertiary<br/>Repetitive Sequences, Amino Acid--genetics<br/>Sequence Deletion--genetics