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[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype].

Biomedica : revista del Instituto Nacional de Salud - 1 Sept 2006

Wilches Ricardo, Vega Hugo, Echeverri Olga, Barrera Luis Alejandro

Abstract excerpt

INTRODUCTION: Gaucher disease is a pan-ethnic condition characterised by glucosylceramide accumulation in macrophages due to glucocerebrosidase deficiency. Its gene, GBA, has been mapped to 1q21 and mutation N370S is the main cause of the disease in western populations, including Colombia. OBJECTIVE: To asses the degree of association between N370S mutation and the alleles of five microsatellites near the...

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PMID: 17176007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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