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Article

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

Journal of human genetics - 1 Jan 2004

LaMarca Mary E, Goldstein Mona, Tayebi Nahid, Arcos-Burgos Mauricio, Martin Brian M, Sidransky Ellen

Abstract excerpt

The gene for glucocerebrosidase ( GBA), the enzyme deficient in Gaucher disease, is located in a gene-rich region on 1q21. Metaxin 1( MTX1) is a convergently transcribed gene contiguous to the 3' end of the GBA pseudogene. A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino a...

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Source

Identifiers

PMID: 15024629
DOI: 10.1007/s10038-004-0134-7

Genes

MTX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15024629-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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