Prevalent and rare mutations among Gaucher patients.

doi:10.1016/0378-1119(90)90264-r

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Article

Prevalent and rare mutations among Gaucher patients.

Gene - 15 Dec 1990

Eyal N, Wilder S, Horowitz M

Abstract excerpt

Sequence analysis of gcs cDNA (encoding glucocerebrosidase) or genomic fragments originated from Gaucher patients revealed novel mutations. Two rare mutations were found in a type-2 non-Jewish Gaucher patient: a G----A transition (Gly325----Arg) at nucleotide (nt) 5306 of the active gene and a T-...

Topics

Alleles
Base Sequence
Cloning, Molecular
Exons
Gaucher Disease
Gene Conversion
Genome, Human
Genotype
Glucosylceramidase
Humans
Introns
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Pseudogenes
Recombination, Genetic

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