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Identification of Gaucher disease mutations found in Saudi Arabia

✍ Scribed by Namik Kaya; Fatima Al-Zahrani; Ali Al-Odaib; Zuhair Rahbeeni; Zuhair Al-Hassnan; Fahad Al-Sharif; Pinar Ozand; Moeenaldeen Al-Sayed


Book ID
116304604
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
123 KB
Volume
41
Category
Article
ISSN
1079-9796

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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