SUN-465 A Rare Germline Loss-of-Function Variant in the Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 2 Gene in a Patient with Abdominal Paraganglioma
SUN-465：腹部副神经节瘤患者丙酮酸脱氢酶磷酸酶催化亚基 2 基因中罕见的种系功能缺失变异
期刊:Journal of Physiology-London
影响因子:4.4
doi:10.1113/JP290429
O'Halloran, Ken D; Iturriaga, Rodrigo; Rocher, Asuncion; Couto, Blas; Pinto, María Jose Angel; Avale, Maria‐Elena; Falzone, Tomas; Gershanik, Oscar; Chade, Anabel; Mizraji, Gabriel; Gonzalez‐Toledo, Maria Eugenia; Peralta, Maria; Gomez‐Arevalo, Gonzalo; Mezmezian, Monica; Marras, Connie; Sevlever, Gustavo; Freitas-Castro, Felipe; Cardoso Fagundes, Gustavo Freitas; Santana, Lucas Santos; Afonso, Ana Caroline F; Ledesma, Felipe L; Soares, Ibere C; Mendonca, Berenice B; Latronico, Ana Claudia; Almeida, Madson Q
