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Article

Microdissection genotyping of archival fixative treated tissue for Gaucher disease.

Human pathology - 1 Apr 2004

Mohan Deepak, Rolston Raj, Pal Rekha, Swalsky Patricia A, Sasatomi Eizaburo, Lee Robert E, Finkelstein Sydney D

Abstract excerpt

The genetic diagnosis of Gaucher disease by molecular methods is complicated by the existence of a highly homologous transcribed pseudogene (96% identity) that is found in close proximity to the true gene on chromosome 1q21. In addition, the pseudogene sequence can mimic disease-causing mutations in the true gene. Selective polymerase chain reaction (PCR) amplification of the true gene can be accomplished in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15116330
DOI: 10.1016/j.humpath.2003.11.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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