Pub. Date : 2009 Mar
PMID : 18804950
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). | Glycine | collagen type III alpha 1 chain | Homo sapiens |