55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

doi:10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P

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Article

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

American journal of medical genetics - 18 Dec 1996

Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E

Abstract excerpt

Mutations in the glucocerebrosidase gene which result in Gaucher disease can originate from the highly homologous glucocerebrosidase pseudogene. A 55-bp deletion in exon 9, which corresponds to a 55-bp segment absent from the pseudogene, has been identified in patients with Gaucher disease. We ha...

Topics

Alleles
Exons
Gaucher Disease
Genetic Testing
Genotype
Glucosylceramidase
Humans
Polymerase Chain Reaction
Pseudogenes
Sequence Deletion

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