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Article

The facile detection of 1505G-->A in Gaucher patients with different phenotypes.

Biochimica et biophysica acta - 31 May 2001

Moraitou M, van Weely S, Verhoek M, Aerts J, Dimitriou E, Michelakakis H

Abstract excerpt

In Gaucher disease patients, over 100 disease-causing mutations have been identified. For identification of the 1504C-->T (R463C) mutation it is common to use PCR-restriction fragmentation analysis using the restriction enzyme MspI. In the present study we investigated the reliability of this approach because accurate determination of genotypes is important in genotype-phenotype correlations. A simple...

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Identifiers

PMID: 11406344
DOI: 10.1016/s0925-4439(01)00033-3

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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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