PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.