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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 have developed a simple polymerase chain reaction (PCR)-based method to detect this 55-bp deletion, and have found this...

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Identifiers

PMID: 8985494
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.PMID 8985494Read ↗

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