Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

Detection of three rare (G377S, T134P an

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

✍ Alfonso J. Sarria; Pilar Giraldo; Juan I. Perez-Calvo; Miguel Pocoví 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB

To study glucocerebrosidase mutations causing Gaucher disease, we have screened 30 apparently unrelated patients for the presence of 7 previous described mutations. N370S (1226A>G) was the most common mutation (43 %), followed by L444P (1448T>C) (23 %). To identify the other unknown mutations, we sc