A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases

BACKGROUND: Our aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature. METHODS: We performed biochemical and molecular screenings in a Mexican girl...

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Detalles Bibliográficos
Autores principales: Rodríguez Gutiérrez, Perla Graciela, González García, Juan Ramón, Castillo De León, Yolanda Alicia, Zárate Guerrero, Juan Rafael, Magaña Torres, María Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957982/
https://www.ncbi.nlm.nih.gov/pubmed/33258201
http://dx.doi.org/10.1002/jcla.23672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957982/
https://www.ncbi.nlm.nih.gov/pubmed/33258201
http://dx.doi.org/10.1002/jcla.23672

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