Identification of a novel MTTP splice variant c.394-2A>C in an infant with abetalipoproteinemia
نویسندگان
چکیده
منابع مشابه
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investi...
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متن کاملAbetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.
Abetalipoproteinemia (ABL) is a rare autosomal disorder characterized by extremely low levels of plasma lipids and apolipoprotein B (apoB) with a variable phenotype. Mutations in the MTP gene encoding the microsomal triglyceride transfer protein (MTP) cause the disease. A five-month-old boy, born from consanguineous parents, with chronic diarrhea and severe malnutrition had extremely low plasma...
متن کاملMolecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-c...
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ژورنال
عنوان ژورنال: Journal of Rare Diseases Research & Treatment
سال: 2019
ISSN: 2572-9411
DOI: 10.29245/2572-9411/2019/2.1176