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Article

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2021

Pachajoa Harry, Acosta Maria Amparo, Alméciga-Díaz Carlos J, Ariza Yoseth, Diaz-Ordoñez Lorena, Caicedo-Herrera Gabriela, Cuartas Daniel, Nastasi-Catanese Jose Antonio, Ramírez-Montaño Diana, Silva Yiseth Katherine, Moreno Lina, Satizabal Jose, Garcia Natalia, Montoya Jorge, Prada Carlos, Porras Gloria, Velasco Harvy, Candelo Estephania

Abstract excerpt

Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven different Colombian regions were tested for MPS IVA mutations. We compared the sequences with the N-acetylgalactosamine-6-sulfatase (GALNS) reference sequence NM_000512.4,...

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Identifiers

PMID: 34542925
DOI: 10.1002/ajmg.c.31936

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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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