First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

por Belosevic, Adrian, Minder, Anna-Elisabeth, Gueuning, Morgan, van Breemen, Franziska, Thun, Gian Andri, Mattle-Greminger, Maja P., Meyer, Stefan, Baumer, Alessandra, Minder, Elisabeth I., Schneider-Yin, Xiaoye, Barman-Aksözen, Jasmin
Publicado 2023