Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report

Figure 2 COL7A1 genetic test. A: The COL7A1 gene in the patient undergoes a mutation, NM-000094.4: Intron35: c.4047 + 1 guanine > adenine (the nucleotide in the coding region 4047 mutates from guanine to adenine); B: The father did not have a mutation; C: The mother has a heterozygous mutation at this locus. G: Guanine; A: Adenine.