Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An...

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Bibliographic Details
Main Authors: Lina Johanna Moreno Giraldo, José María Satizabal, Adalberto Sánchez Gómez
Format: Article
Language:English
Published: SciELO 2021-08-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Computational Biology
Exome sequencing
Mucopolysaccharidosis Complex
Lysosomal Storage Diseases
Allelic Frequency
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100322&tlng=en

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