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Human α-galactosidase A: High plasma activity expressed by the -30G→A allele

✍ Scribed by T.F. Fitzmaurice; R.J. Desnick; D.F. Bishop

Book ID
110223133
Publisher
Springer
Year
1997
Tongue
English
Weight
147 KB
Volume
20
Category
Article
ISSN
0141-8955

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✍ 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