Pub. Date : 2006 Nov-Dec
PMID : 17229600
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |
| 2 | Typically, the dominant forms (DDEB) result from glycine substitutions within COL7A1, whereas other glycine mutations are "silent" in the heterozygous state and produce disease only when they are homozygous. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |
| 3 | We identified a new glycine substitution within the collagenous region in exon 94 of the COL7A1 gene. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |
| 4 | This finding expands the allelic series of COL7A1 mutations underlying mild recessive dystrophic epidermolysis bullosa (RDEB) and sheds further light upon regions of the type VII collagen triple helix that are tolerant of heterozygous glycine substitutions. | Glycine | collagen type VII alpha 1 chain | Homo sapiens |