Pub. Date : 1999 Jun
PMID : 10383749
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Four patients had a glycine substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 + 1G-to-A) and a single base pair deletion (7786delG), and a sixth patient was heterozygous for an out-of-frame deletion mutation (6863del16). | Glycine | collagen type VII alpha 1 chain | Homo sapiens |