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Article

[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].

Pathologie-biologie - 1 Mar 2008

Dandana A, Ferchichi S, Ben Khelifa S, Jaidane Z, Monastiri K, Chkioua L, Maire I, Froissart R, Bonnet V, Laradi S, Miled A

Abstract excerpt

Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The application of combined methods in molecular biology allowed us to analyse the p.Asn 370 Ser mutation. The affected individual activity is very l...

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Identifiers

PMID: 18178337
DOI: 10.1016/j.patbio.2007.09.029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18178337-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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