Article
Molecular diagnosis of Gaucher disease type II.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui - 1 Jan 2000
Tsai F J, Chen H W, Peng C T, Tsai C H, Hwu W L, Wang T R, Liu S C
Abstract excerpt
Gaucher disease is a rare autosomal recessive lysosomal storage disorder in Chinese. A mutation at nucleotide 1448C (T-to-C) of the glucocerebrosidase gene is described in type 2 Gaucher disease. This mutation creates a Bcn I site in a polymerase chain reaction (PCR) amplified fragment. This technique was applied to a Chinese infant with type 2 Gaucher disease, and homozygosity for 1448C mutation was proved. This...
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