Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Hum Genet. 1995 May;95(5):557-61. doi: 10.1007/BF00223869.
Five point mutations were identified in unrelated Japanese Fabry disease hemizygotes: three new missense mutations, C142Y (425 G-->A), A156V (467 C-->T), and L166V (496 C-->G) in exon 3; one new splice site mutation at the 3' end of the consensus sequence in exon 4; one previously reported nonsense mutation, W44X (131 G-->A). C142Y expressed 50% of the normal enzyme protein in COS-1 cells, but catalytic activity was not detected. Both A156V and L166V expressed significant amounts of residual enzyme activity (6.7% and 9.8%) and enzyme proteins (10% each), the latter were more thermolabile at neutral pH than at acid pH, in vitro.
