Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng C.M.; Resnick-Silverman L.A.; Niehaus D.J.; Astrin K.H.; Desnick R.J.;
Am. J. Hum. Genet. 53:1186-1197(1993)
Cited for: VARIANTS FD SER-34; GLY-56; ARG-162; GLN-227; VAL-264; VAL-266; PHE-297; TYR-313; ALA-328 AND ARG-404 DEL;
Mutation analysis in 11 French patients with Fabry disease.
Guffon N.; Froissart R.; Chevalier-Porst F.; Maire I.;
Hum. Mutat. Suppl. 1:S288-S290(1998)
Cited for: VARIANTS FD SER-40; SER-215; ASP-224; TYR-313 AND TRP-THR-SER-247 INS;
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D.; Hill J.A.; Winchester B.G.;
Hum. Mutat. 18:459-459(2001)
Cited for: VARIANTS FD TYR-46; GLY-47; PRO-49; SER-94; SER-95; CYS-112; SER-113; THR-143; SER-215; ARG-258; ARG-259; ILE-267; HIS-279; HIS-280; HIS-298; TYR-313; HIS-363; ASP-377; ALA-409 AND THR-409;
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