𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Determining the frequency of common mutations in the GBA gene in patients with Gaucher disease in Ukraine

✍ Scribed by N. G. Gorovenko; N. V. Ol’khovich; A. M. Nedoboy; N. O. Pichkur

Book ID
111495627
Publisher
Allerton Press Inc
Year
2007
Tongue
Ukrainian
Weight
189 KB
Volume
41
Category
Article
ISSN
0095-4527

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The identification of eight novel glucoc
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
✍ E. Orvisky; J.K. Park; A. Parker; J.M. Walker; B.M. Martin; B.K. Stubblefield; E 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 1 views

Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T→A) were identified by dir

Linkage disequilibrium of common Gaucher
Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in thepyruvate kinase (PKLR) gene
✍ Rockah, Rivkah; Narinsky, Ronit; Frydman, Moshe; Cohen, Ian J.; Zaizov, Rina; We 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

Gaucher disease (GD), caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GBA), is the most common human glycolipid storage disease. The incidence of the disease is particularly high in the Ashkenazi Jewish population, with a carrier frequency of 0.068. The 1226A→G and 84GG mutations