A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases

por Rodríguez Gutiérrez, Perla Graciela, González García, Juan Ramón, Castillo De León, Yolanda Alicia, Zárate Guerrero, Juan Rafael, Magaña Torres, María Teresa
Publicado 2020

Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 D...

por Rodríguez-Gutiérrez, Perla Graciela, Colima-Fausto, Ana Gabriela, Zepeda-Olmos, Paola Montserrat, Hernández-Flores, Teresita de Jesús, González-García, Juan Ramón, Magaña-Torres, María Teresa
Publicado 2022