Giuseppe Cammarata Pasquale Fatuzzo Margherita Stefania Rodolico Paolo Colomba Luigi Sicurella Francesco Iemolo Carmela Zizzo Riccardo Alessandro Caterina Bartolotta Giovanni Duro Ines Monte
10.1155/2015/504784
Biomed Res Int
2015;2015:504784.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25977923/
Fabry Disease / genetics Family
Fabry Disease / genetics Family Case Reports Adult Base Sequence DNA Mutational Analysis Fabry Disease / enzymology Female Humans Italy Male Middle Aged Molecular Sequence Data Pedigree Young Adult alpha-Galactosidase / genetics alpha-Galactosidase
PMC4421032
25977923
High variability of Fabry disease manifestations in an extended Italian family
2015