Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.

doi:10.1007/s004390050182

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Article

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease.

Human genetics - 1 Aug 1996

Ida H, Rennert O M, Kawame H, Ito T, Maekawa K, Eto Y

Abstract excerpt

Using PCR and PCR-single strand conformation polymorphism (SSCP) we have identified gene mutations in 17 Japanese patients with neuropathic Gaucher disease (type 2, 9 cases; type 3, 8 cases). The L444P, F213I, D409H, and 1447 del 20 and 1447 ins TG mutations accounted for eight (type 2, 6; type 3...

Topics

Alleles
Child, Preschool
Gaucher Disease
Genetic Testing
Genotype
Humans
Infant
Japan
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

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