Shapiro, J R <br/><br/>
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.  [electronic resource] 

 -  The Journal of clinical investigation  Feb 1992 
 - 567-73 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0021-9738 
<br/><br/><label>Standard No.: </label>10.1172/JCI115622  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Collagen--analysis<br/>Cysteine--analysis<br/>DNA--analysis<br/>Electrophoresis, Polyacrylamide Gel<br/>Female<br/>Glycine--analysis<br/>Humans<br/>Molecular Sequence Data<br/>Mutation<br/>Osteogenesis Imperfecta--genetics<br/>Osteoporosis--genetics<br/>Protein Conformation