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- [4] Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa Archives of Dermatological Research, 2000, 292 : 477 - 481
- [8] Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (05):