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Identification of two novel β-mannosidosis-associated sequence variants: Biochemical analysis of β-mannosidase (MANBA) missense mutations

✍ Scribed by Hilde Monica Frostad Riise Stensland; Emanuele Persichetti; Carmelita Sorriso; Gaute Martin Hansen; Lucia Bibi; Silvia Paciotti; Chiara Balducci; Tommaso Beccari

Book ID: 116988374
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 410 KB
Volume: 94
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.04.010

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The lysosomal storage disorder alphamannosidosis is caused by deficiency of the enzyme lysosomal alpha-mannosidase (MAN2B1). In this study, 96 disease-associated sequence variants were identified in 130 unrelated alpha-mannosidosis patients from 30 countries. Eighty-three novel variants were detecte