Fabry disease: D313Y is an α-galactosidase A sequence variant that causes pseudodeficient activity in plasma

Fabry disease: Characterization of α-gal

Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

✍ Makiko Yasuda; Junaid Shabbeer; Stacy D. Benson; Irene Maire; Roger M. Burnett; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 372 KB

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the gene encoding the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-Gal A; GLA). In two unrelated classically affected males, two alpha-Gal A missense mutations were identified: R112C + D31