Open AccessMolecular genetics of Pompe disease: a comprehensive overview
Author(s) -
Paolo Peruzzo,
Eleonora Pavan,
Andrea Dardis
Publication year - 2019
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm.2019.04.13
Subject(s) - missense mutation , genetics , gene , phenotype , glycogen storage disease type ii , biology , mutation , rna splicing , allele , genetic counseling , disease , gene mutation , allelic heterogeneity , genotype , genotype phenotype distinction , medicine , enzyme replacement therapy , pathology , rna