PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 15113589-0 2004 The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. Glycine 11-18 collagen type VII alpha 1 chain Homo sapiens 44-50 15113589-1 2004 BACKGROUND: Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele. Glycine 12-19 collagen type VII alpha 1 chain Homo sapiens 46-52 15113589-9 2004 CONCLUSION: This paper has demonstrated for the first time that identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical DDEB and EB pruriginosa. Glycine 81-88 collagen type VII alpha 1 chain Homo sapiens 74-80