Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng C.M.; Ashley G.A.; Burgert T.S.; Enriquez A.L.; D'Souza M.; Desnick R.J.;
Mol. Med. 3:174-182(1997)
Cited for: VARIANTS FD VAL-31; 45-ARG-SER-46; ARG-46; CYS-86; PRO-89; THR-91; TYR-92; TYR-94; VAL-97; THR-100; LEU-113; SER-134; ARG-138; THR-143; ARG-148; VAL-163; VAL-170; TYR-202; 205-PRO--TYR-207 DEL; ASP-216; SER-263; CYS-287; SER-298 AND ARG-404 DEL;
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu A.K.; Ashley G.A.; Tong B.; Shabbeer J.; Astrin K.H.; Eng C.M.; Desnick R.J.;
Mol. Med. 5:806-811(1999)
Cited for: VARIANTS FD VAL-42; CYS-112; ARG-142; ARG-148; VAL-165; ASP-183; SER-215; CYS-235; LEU-236; HIS-244; LEU-259; ILE-267; PHE-289; GLU-321; GLU-358 DEL AND TYR-378;
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