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A newly identified c.1824_1828dupATACG mutation in exon 13 of theGAAgene in infantile-onset glycogen storage disease type II (Pompe disease)

✍ Scribed by Omid Aryani,Masoumeh Dehghan Manshadi,Mahdi Tondar…


Book ID
126359050
Publisher
Springer
Year
2014
Tongue
English
Weight
663 KB
Volume
41
Category
Article
ISSN
0301-4851

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Mutation profile of the GAA gene in 40 I
✍ A.L.E. Montalvo; B. Bembi; M. Donnarumma; M. Filocamo; G. Parenti; M. Rossi; L. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 1 views

Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. We report here the complete molecular analysis of the GAA gene performed on 40 Itali