Three unique base pair changes in a family with Gaucher disease.

doi:10.1007/BF00200914

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Article

Three unique base pair changes in a family with Gaucher disease.

Human genetics - 1 Jul 1991

Eyal N, Firon N, Wilder S, Kolodny E H, Horowitz M

Abstract excerpt

Single-stranded cDNA was prepared from RNA obtained from a patient with type 1 Gaucher disease. The cDNA was amplified in vitro and analyzed by sequencing. Three base-pair changes were identified which included a G to C transversion at nucleotide 3119 of the active gene (Asp140----His), an A to C...

Topics

Base Composition
Base Sequence
Cells, Cultured
Cloning, Molecular
DNA
Female
Gaucher Disease
Genotype
Glucosylceramidase
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

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