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Fig. 6 | BMC Pediatrics

Fig. 6

From: Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

Fig. 6

(A) Shows the patient’s Sanger sequencing technology revealing the COL7A1 gene. b illustrates the patient’s and parents’ results from genetic testing showing the COL7A1 gene. (B) A nucleotide change (c.6163G > A) in axon 73 and heterozygous variant in the COL7A1(NM_000094.3) gene was present in the affected individuals. Additionally, there is an amino acid change (p. Gly2055Arg). This genetic variation is situated at location 48,612,789 on chromosome three, in the EX73/CDS73 region. Red arrows indicated nucleotides that were mutated as seen in the Figure

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BMC Pediatrics

ISSN: 1471-2431

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