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;
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J.; Robinson M.; Desnick R.J.;
Hum. Mutat. 25:299-305(2005)
Cited for: VARIANTS FD VAL-31; LEU-42; ARG-43; ASN-93; CYS-112; HIS-112; SER-112; SER-134; VAL-135; ASP-171; PHE-201; SER-215; GLU-234; ASP-261; TYR-264; VAL-264; GLY-276; PRO-285; PHE-300; ALA-328; VAL-328; LYS-338; ALA-358; GLU-358 DEL; ARG-404 DEL AND SER-414;
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