Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
Takata T.; Okumiya T.; Hayashibe H.; Shimmoto M.; Kase R.; Itoh K.; Utsumi K.; Kamei S.; Sakuraba H.;
Brain Dev. 19:111-116(1997)
Cited for: VARIANTS FD PRO-20; SER-40; GLN-66; VAL-72; CYS-112; TYR-142; VAL-156; VAL-166; ASN-242; ALA-260; ASP-261; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328; GLU-358 DEL AND SER-373;
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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