Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
携带独特的 c.6527insC 突变的个体患有罕见的皮肤病——隐性营养不良性大疱性表皮松解症，研究发现其起源于塞法迪犹太人。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110967
Warshauer, Emily Mira; Maier, Paul A; Runfeldt, Goran; Fuentes, Ignacia; Escamez, Maria José; Valinotto, Laura; Natale, Monica; Manzur, Graciela; Illera, Nuria; Garcia, Marta; Del Rio, Marcela; Mencia, Angeles; Holguin, Almudena; Larcher, Fernando; Hellenthal, Garrett; Brown, Adam R; Consuegra, Liliana; Rivera, Carolina; Nogueiro, Inês; Tang, Jean; Oro, Anthony; Marinkovich, Peter; Palisson, Francis; Titeux, Matthias; Hovnanian, Alain A; Sprecher, Eli; Skorecki, Karl; Norris, David; Bruckner, Anna; Kogut, Igor; Bilousova, Ganna; Roop, Dennis
