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Article

Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.

Journal of clinical laboratory analysis - 1 Jul 2024

Hernández-Orozco Angélica Alejandra, Melendez-Aranda Lennon, Mendoza-Ruvalcaba Sandra Del Carmen, Perea-Díaz Francisco Javier, Cebolla Jorge J, Giraldo Pilar, Brambila-Tapia Aniel Jessica Leticia, García-Ortíz José Elías

Abstract excerpt

BACKGROUND: LIPA, situated on chromosome 10q23.2-q23.3, encodes the enzyme lysosomal acid lipase (LAL) (EC 3.1.1.13). Genetic alterations in LIPA lead to lysosomal acid lipase deficiency (LALD), an inborn error causing lipid metabolism anomalies and impairing cholesterol and triacylglyceride degradation. Over 40 LIPA variants have been documented, yet this study focuses on just two. The rs1051338 variant...

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Identifiers

PMID: 39105399
DOI: 10.1002/jcla.25083
PMCID: PMC11317768

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