First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
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| Title: | First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2. |
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| Authors: | Villafán-Bernal JR; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico.; Programa de Investigadoras e Investigadores por México, Secretaría de Ciencia, Humanidades, Tecnología e Innovación, Mexico City 03940, Mexico., Rosas-Hernández J; Centro de Rehabilitación Infantil Teletón, Altamira 89607, Tamaulipas, Mexico., García-Ortiz H; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Martínez-Hernández A; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Contreras-Cubas C; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Guerrero-Contreras I; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Lee H; 3billion, Inc., Seoul 03161, Republic of Korea., Seo GH; 3billion, Inc., Seoul 03161, Republic of Korea., Carnevale A; Mendelian Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City 14610, Mexico. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2025 Dec 14; Vol. 26 (24). Date of Electronic Publication: 2025 Dec 14. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1422-0067 |
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| DOI: | 10.3390/ijms262412039 |
