Detection of three rare (G377S, T134P an
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Alfonso J. Sarria; Pilar Giraldo; Juan I. Perez-Calvo; Miguel Pocovรญ
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Article
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1999
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John Wiley and Sons
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English
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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