Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bullosa (RDEB-SG)] subtype, which is inherited in an autosomal recessive man...

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Hauptverfasser:	Ben Brick, Ahlem Sabrine, Laroussi, Nadia, Mesrati, Hela, Kefi, Rym, Bchetnia, Mbarka, Lasram, Khaled, Ben Halim, Nizar, Romdhane, Lilia, Ouragini, Houyem, Marrakchi, Salaheddine, Boubaker, Mohamed Samir, Meddeb Cherif, Mounira, Castiglia, Daniele, Hovnanian, Alain, Abdelhak, Sonia, Turki, Hamida
Format:	Artikel
Sprache:	eng
Schlagworte:	COL7A1 Dermatologie founder effect Génétique novel mutations Recessive dystrophic epidermolysis bullosa severe generalized
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