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Article

Efficient detection of frequent eIF2B mutations for the rapid molecular diagnosis of CACH/VWM syndrome.

Clinical biochemistry - 1 Dec 2015

Ferreira Marie-Céleste, Dorboz Imen, Boespflug-Tanguy Odile

Abstract excerpt

OBJECTIVES: The aim of this study was to develop a reliable, rapid and cost-effective molecular diagnostic assay allowing widespread routine investigation of eIF2B-related disorders (CACH/VWM syndrome). This heterogeneous disease is caused by autosomal recessive mutations in the genes encoding the five subunits of the translation-initiation factor eIF2B. Such a diagnostic method would be particularly adapted to...

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PMID: 26162493
DOI: 10.1016/j.clinbiochem.2015.07.004

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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