Article
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Human molecular genetics - 1 Dec 1996
Zhou X Y, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry G T, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A
Abstract excerpt
Mutations in the gene encoding lysosomal protective protein/cathepsin A (PPCA) are the cause of the lysosomal disorder galactosialidosis (GS). Depending on age of onset and severity of the symptoms, patients present with either an early infantile (EI), a late infantile (LI), or a juvenile/adult (J/A) form of the disease. To study genotype-phenotype correlation in this disorder, we have analyzed the mutations in...
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