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New clinical manifestations in 2 brothers with alpha-mannosidosis

✍ Scribed by Li, Hong; James, Philip

Book ID
123311313
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
60 KB
Volume
108
Category
Article
ISSN
1096-7192

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## Mutation analysis performed on six Italian families with alpha-mannosidosis type II, allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conse