Milewicz, D M <br/><br/>
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.  [electronic resource] 

 -  The Journal of clinical investigation  May 1995 
 - 2373-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0021-9738 
<br/><br/><label>Standard No.: </label>10.1172/JCI117930  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Alleles<br/>Amino Acid Sequence<br/>Base Sequence<br/>Body Height<br/>Cells, Cultured<br/>DNA Primers<br/>Exons<br/>Extracellular Matrix--pathology<br/>Extracellular Matrix Proteins--biosynthesis<br/>Female<br/>Fibrillin-1<br/>Fibrillins<br/>Fibroblasts--pathology<br/>Humans<br/>Male<br/>Marfan Syndrome--genetics<br/>Microfilament Proteins--biosynthesis<br/>Middle Aged<br/>Molecular Sequence Data<br/>Pedigree<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>Protein Precursors--genetics<br/>Protein Processing, Post-Translational<br/>Protein Sorting Signals--chemistry<br/>Sequence Homology, Amino Acid<br/>Skin--metabolism