Stover, M L <br/><br/>
Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.  [electronic resource] 

 -  The Journal of clinical investigation  Oct 1993 
 - 1994-2002 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0021-9738 
<br/><br/><label>Standard No.: </label>10.1172/JCI116794  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alleles<br/>Alternative Splicing<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cell Line<br/>Collagen--biosynthesis<br/>Exons<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Introns<br/>Molecular Sequence Data<br/>Mutation<br/>Oligodeoxyribonucleotides<br/>Osteogenesis Imperfecta--genetics<br/>Polymerase Chain Reaction<br/>RNA, Messenger--genetics<br/>Skin--metabolism