Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Felzen A;van Wessel DBE;Gonzales E;Thompson RJ;Jankowska I;Shneider BL;Sokal E;Grammatikopoulos T;Kadaristiana A;Jacquemin E;Spraul A;Lipiński P;Czubkowski P;Rock N;Shagrani M;Broering D;Nicastro E;Kelly D;Nebbia G;Arnell H;Fischler B;Hulscher JBF;Serranti D;Arikan C;Polat E;Debray D;Lacaille F;Goncalves C;Hierro L;Muñoz Bartolo G;Mozer-Glassberg Y;Azaz A;Brecelj J;Dezsőfi A;Calvo PL;Grabhorn E;Hartleif S;van der Woerd WJ;Kamath BM;Wang JS;Li L;Durmaz Ö;Kerkar N;Jørgensen MH;Fischer R;Jimenez-Rivera C;Alam S;Cananzi M;Laverdure N;Ferreira CT;Guerrero FO;Wang H;Sency V;Kim KM;Chen HL;de Carvalho E;Fabre A;Bernabeu JQ;Zellos A;Alonso EM;Sokol RJ;Suchy FJ;Loomes KM;McKiernan PJ;Rosenthal P;Turmelle Y;Horslen S;Schwarz K;Bezerra JA;Wang K;Hansen BE;Verkade HJ;NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium.

2022-01-01