Pub. Date : 2003 Jul
PMID : 12823310
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |
| 2 | In this study, we identified a Chinese family with a four-generation pedigree of DDEB, in whom a novel glycine substitution mutation in COL7A1 was demonstrated. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |
| 3 | A heterozygous nucleotide G-->A transition at position 6208 in exon 74 of COL7A1 was detected, which resulted in a glycine to arginine substitution (G2070R) in the triple-helical domain of type VII collagen. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |