... identified for Gaucher disease [20,21], Tay-Sachs and Sandhoff dis-ease [22] (details for Gaucher and Tay-Sachs ⁄ Sandhoffdiseases are reviewed separately), GM1-gangliosidosis[23], and retinitis ... N215S, Q279E, M296I, and M296V), four mutations found in classic patients(E59K, A156V, L166V, and R356W), and two muta-tions present in both variant and classic patients(A97V and R301Q) were efficiently ... 2contains antiparallel b strands. The galactose ligand is shown inyellow and red. (B) Fabry disease-causing point mutations areshown on the human a-Gal A dimer. The red, blue, and greenbonds show...