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

Autor: Nizar Ben Halim, Mbarka Bchetnia, Khaled Lasram, Daniele Castiglia, Nadia Laroussi, Sonia Abdelhak, Lilia Romdhane, Rym Kefi, Mounira Meddeb Cherif, Houyem Ouragini, Mohamed Samir Boubaker, Hamida Turki, Ahlem Sabrine Ben Brick, Alain Hovnanian, Salaheddine Marrakchi, Hela Mesrati

Publikováno v: Archives of Dermatological Research
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉

International audience; 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 bu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dadbed3d4ad3a3a003b9a9cda16fb6f
https://hal-riip.archives-ouvertes.fr/pasteur-01061249