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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Bibliographic Details
Main Authors:	Castillo De León, Y.A (Author), González García, J.R (Author), Magaña Torres, M.T (Author), Rodríguez Gutiérrez, P.G (Author), Zárate Guerrero, J.R (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	abetalipoproteinemia Abetalipoproteinemia abetalipoproteinemia in Mexico acanthocytosis adolescent Adolescent adult Adult aminotransferase analysis of 100 cases with abetalipoproteinemia anemia Article asparagine carrier protein Carrier Proteins case report child Child chronic diarrhea clinical feature controlled study diarrhea dyslipidemia failure to thrive female Female gene deletion gene mutation gene sequence genetics glutamic acid glycine homozygosity human Humans hypertransaminasemia lipid low lipid levels major clinical study malabsorption male Male Mexican Mexico microsomal triglyceride transfer protein middle aged Middle Aged MTTP gene mutation Mutation novel mutation p.Gly417Valfs*12 odds ratio pathogenesis pedigree Pedigree phenotype preschool child school child valine vitamin deficiency vomiting
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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

Internet

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