✦ LIBER ✦

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

✍ Scribed by Ankleshwaria, Chitra; Sheth, Jayesh; Mistri, Mehul; Bavdekar, Ashish; Nampoothiri, Sheela; Gupta, Sarita; Sheth, Frenny

Book ID: 121565603
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 70 KB
Volume: 7
Category: Article
ISSN: 1755-8166
DOI: 10.1186/1755-8166-7-S1-P52

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

Molecular analysis of Turkish Gaucher di

Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene

✍ Serap Emre; Figen Gürakan; Aysel Yüce; Arnold Rolf; Ronald Scott; Hasan Özen 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 130 KB

Glucocerebrosidase gene mutations in pat

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

✍ Deborah L. Stone; Nahid Tayebi; Eduard Orvisky; Barbara Stubblefield; Victor Mad 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 1 views

## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2

Determining the frequency of common muta

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

✍ N. G. Gorovenko; N. V. Ol’khovich; A. M. Nedoboy; N. O. Pichkur 📂 Article 📅 2007 🏛 Allerton Press Inc 🌐 Ukrainian ⚖ 189 KB

Rapid identification of mutations in the

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

✍ Hiroshi Kawame; Yoriyasu Hasegawa; Yoshikatsu Eto; Kihei Maekawa 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 440 KB

To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10 and 11 of the glucocerebrosidase gene; these exon

Two novel polymorphic sequences in the g

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

✍ Elaine K. Lau; Nahid Tayebi; Loring J. Ingraham; Suzanne L. Winfield; V. Koprivi 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 163 KB