Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
PLoS Genet. 2013;9(8):e1003632. doi: 10.1371/journal.pgen.1003632. Epub 2013 Aug 1.
PLoS Genet. 2013.
PMID: 23935525
Free PMC article.