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 acid change F202L, was identified in patients with Gaucher disease in association with the common N370S mutation in GBA....
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