In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing
Fernández-Lainez, Cynthia, Aláez-Verson, Carmen, Ibarra-González, Isabel, Enríquez-Flores, Sergio, Carrillo-Sanchez, Karol, Flores-Lagunes, Leonardo, Guillén-López, Sara, Belmont-Martínez, Leticia, VeLanguage:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2018.04.020
Date:
April, 2018
File:
PDF, 768 KB
english, 2018