𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

✍ Scribed by Zampieri, Stefania; Buratti, Emanuele; Dominissini, Silvia; Montalvo, Anna Lisa; Pittis, Maria Gabriela; Bembi, Bruno; Dardis, Andrea


Book ID
109849293
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
571 KB
Volume
19
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Glycogen storage disease type II: Geneti
✍ Monique M. P. Hermans; Marian A. Kroos; Jan A. M. Smeitink; Ans T. van der Ploeg 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 1 views

Glycogen Storage Disease type II (GSDII) is caused by the deficiency of lysosomal a-glucosidase (acid maltase). This paper reports on the characterization of the molecular defects in 6 infantile patients from Turkish ancestry. Five of the 6 patients had reduced levels of the lysosomal a-glucosidase

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