Fig. 1: The pedigree and COL7A1 nonsense variant.
From: Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy
a Pedigree of the patient. The parents are not consanguineous. b IGV image of long-range PCR-based NGS. The entire COL7A1 genomic region is covered by two sets of long PCR primers. Note that the orientation of COL7A1 is in the opposite direction in the genome. c Sanger sequencing validated the nonsense variant in the patient and revealed that both parents were carriers.
