Article
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
American journal of medical genetics. Part A - 1 Nov 2021
Warshauer Emily Mira, Brown Adam, Fuentes Ignacia, Shortt Jonathan, Gignoux Chris, Montinaro Francesco, Metspalu Mait, Youssefian Leila, Vahidnezhad Hassan, Jacków Joanna, Christiano Angela M, Uitto Jouni, Fajardo-Ramírez Óscar R, Salas-Alanis Julio C, McGrath John A, Consuegra Liliana, Rivera Carolina, Maier Paul A, Runfeldt Goran, Behar Doron M, Skorecki Karl, Sprecher Eli, Palisson Francis, Norris David A, Bruckner Anna L, Kogut Igor, Bilousova Ganna, Roop Dennis R
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile,...
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