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A homozygous insertion–deletion in the type VII collagen gene ( COL7A1 ) in Hallopeau–Siemens dystrophic epidermolysis bullosa (1993)

Hilal, Latifa ; Rochat, Ariane ; Duquesnoy, Philippe ; [et al.]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 287-293

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ISSN: 1546-1718

Source: Nature Archives 1869 - 2009

Topics: Biology , Medicine

Notes: [Auszug] 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 ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/ng1193-287

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