A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Plos Genetics
Mederer, Tanja T; Schmitteckert, Stefanie S; Volz, Julia J; Martínez, Cristina C; Röth, Ralph R; Thumberger, Thomas T; Eckstein, Volker V; Scheuerer, Jutta J; Thöni, Cornelia C; Lasitschka, Felix F; Carstensen, Leonie L; Günther, Patrick P; Holland-Cunz, Stefan S; Hofstra, Robert R; Brosens, Erwin E; Rosenfeld, Jill A JA; Schaaf, Christian P CP; Schriemer, Duco D; Ceccherini, Isabella I; Rusmini, Marta M; Tilghman, Joseph J; Luzón-Toro, Berta B; Torroglosa, Ana A; Borrego, Salud S; Sze-Man Tang, Clara C; Garcia-Barceló, Mercè M; Tam, Paul P; Paramasivam, Nagarajan N; Bewerunge-Hudler, Melanie M; De La Torre, Carolina C; Gretz, Norbert N; Rappold, Gudrun A GA; Romero, Philipp P; Niesler, Beate B
A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.