✦ LIBER ✦

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease

✍ Scribed by E. Orvisky; J.K. Park; A. Parker; J.M. Walker; B.M. Martin; B.K. Stubblefield; E. Uyama; N. Tayebi; E. Sidransky

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 145 KB
Volume: 19
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9024

No coin nor oath required. For personal study only.

✦ Synopsis

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 direct sequencing of three amplified segments of the glucocerebrosidase gene. Five of the novel mutations were found in patients with neuronopathic forms of Gaucher disease, two of which, K198E and F251L, appear to be associated with type 2 Gaucher disease.

📜 SIMILAR VOLUMES

Gaucher disease: mutation and polymorphi

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

✍ Kathleen S. Hruska; Mary E. LaMarca; C. Ronald Scott; Ellen Sidransky 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB 👁 1 views

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

Type 1 Gaucher disease: Identification o

Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

✍ Olga Amaral; Eugénia Pinto; Margarida Fortuna; Lucia Lacerda; M.C. Sá Miranda 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 1 views

Analysis of the glucocerebrosidase gene

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

✍ Mirella Filocamo; Raffaella Mazzotti; Marina Stroppiano; Marco Seri; Fiorina Gio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB

Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the glucocerebrosidase gene (GBA). In this paper we report the molecular characterization of 144 unrelated Italian GD patients with t

Gaucher type 2 disease: Identification o

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient

✍ Choy, Francis Y.M.; Humphries, M. Lisa; Ben-Yoseph, Yoav 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Mutation analysis in patients with Wilso

Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations

✍ Regina Haas; Bertha Gutierrez-Rivero; Judith Knoche; Klaus Böker; Michael P. Man 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802-808delTGTAAGT, 2