ArticleIndian journal of gastroenterology : official journal of the Indian Society of Gastroenterology2016
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
Article in Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 16 citations in OpenAlex.
- Identification and characterisation of a rareJHEP reports : innovation in hepatology · 2023Article
- Current Diagnosis and Management of Abetalipoproteinemia.Journal of atherosclerosis and thrombosis · 2021Review
- 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.Journal of clinical laboratory analysis · 2021Article
- The crystal structure of human microsomal triglyceride transfer protein.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
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9 authors at 4 institutions in 2 countries.
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Abstract
Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.
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