A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

@article{Hilal1993AHI,
  title={A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa},
  author={Latifa Hilal and Ariane Rochat and Philippe Duquesnoy and Claudine Blanchet-Bardon and Janine Wechsler and Nadine Martin and Angela M. Christiano and Yann Barrandon and Jouni Uitto and Michel Goossens and Alain Hovnanian},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={287-293}
}
The Hallopeau–Siemens type of recessive dystrophic epidermolysis bullosa (HS–RDEB) is a life–threatening autosomal disease characterized by loss of dermal–epidermal adherence with abnormal anchoring fibrils (AF). We recently linked HS–RDEB to the type VII collagen gene (COL7A1) which encodes the major component of AF. We describe a patient who is homozygous for an insertion–deletion in the FN–4A domain of the COL7A1 gene. This defect causes a frameshift mutation which leads to a premature stop… CONTINUE READING

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