Schwarze, U <br/><br/>
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.  [electronic resource] 

 -  American journal of human genetics  Nov 2001 
 - 989-1001 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/324123  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Base Sequence<br/>Blotting, Western<br/>Cell Nucleus--genetics<br/>Cells, Cultured<br/>Codon, Nonsense--genetics<br/>Collagen--chemistry<br/>Collagen Type III--chemistry<br/>Cytoplasm--genetics<br/>DNA Mutational Analysis<br/>Ehlers-Danlos Syndrome--classification<br/>Exons--genetics<br/>Fibroblasts<br/>Frameshift Mutation--genetics<br/>Genes, Dominant--genetics<br/>Heterozygote<br/>Humans<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Phenotype<br/>Polymorphism, Genetic--genetics<br/>Procollagen--chemistry<br/>Protein Structure, Quaternary<br/>RNA Precursors--genetics<br/>RNA Stability<br/>RNA, Messenger--genetics