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 patients with the typical form of Anderson-Fabry disease.
Davies J.P.; Winchester B.G.; Malcolm S.;
Hum. Mol. Genet. 2:1051-1053(1993)
Cited for: VARIANTS FD SER-34; SER-215; ALA-269; LYS-327 AND ARG-361;
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Madsen K.M.; Hasholt L.; Soerensen S.A.; Lagerstroem Fermer M.; Dahl N.;
Hum. Mutat. 5:277-278(1995)
Cited for: VARIANTS FD PRO-32; SER-34; ASP-85; THR-156 AND GLN-301;
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