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Article

Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

Molecular genetics and metabolism - 1 Dec 2005

Pomponio R J, Cabrera-Salazar M A, Echeverri O Y, Miller G, Barrera L A

Abstract excerpt

Gaucher disease is the most common of the lysosomal storage disorders, affecting all ethnic groups. The pathology of this recessively inherited disease arises from the accumulation of glucocerebroside in tissues due to deficient activity of the enzyme glucocerebrosidase (E.C. 3.2.1.45). The glucocerebrosidase (GBA) gene spans a 7.2kb fragment located on locus 1q 21, consisting of 11 exons and 10 introns. Located...

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Identifiers

PMID: 16185907
DOI: 10.1016/j.ymgme.2005.07.026

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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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