A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

doi:10.1111/j.1399-0004.1995.tb04070.x

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Article

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

Clinical genetics - 1 Sept 1995

Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R

Abstract excerpt

Mutation screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients. Direct sequencing of the mutated samples identified a G6490-->A transition. The same mutation has been described before in a Japanese patient with...

Topics

Adenine
Child, Preschool
Exons
Gaucher Disease
Genetic Testing
Glucosylceramidase
Guanine
Humans
Infant
Italy
Male
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational

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