LAUSR

Broad variation in phenotypes for common GAA genotypes in Pompe disease

Sign Up to like & get
recommendations!
2 Published in 2021 at "Human Mutation"

DOI: 10.1002/humu.24272

Abstract: Patients with the common c.‐32‐13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we… read more here.

Keywords: variation; gaa genotypes; broad variation; common gaa ... See more keywords