A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
Koide T.; Ishiura M.; Iwai K.; Inoue M.; Kaneda Y.; Okada Y.; Uchida T.;
FEBS Lett. 259:353-356(1990)
Cited for: INVOLVEMENT IN FD; VARIANT FD SER-40;
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;
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;
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