A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

Author:

Pons Véronique,Rolland Corinne,Nauze Michel,Danjoux Marie,Gaibelet Gérald,Durandy Anne,Sassolas Agnès,Lévy Emile,Tercé François,Collet Xavier,Mas Emmanuel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 25 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Kronik ishalin nadir bir nedeni; geç tanılı abetalipoproteinemi;Akademik Gastroenteroloji Dergisi;2022-04-30

2. Congenital Disorders of Lipid Transport;Textbook of Pediatric Gastroenterology, Hepatology and Nutrition;2021-11-25

3. Current Diagnosis and Management of Abetalipoproteinemia;Journal of Atherosclerosis and Thrombosis;2021-10-01

4. Inflammatory and Miscellaneous Conditions of the Small Intestine;Gastrointestinal Pathology;2021-04-30

5. 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;2020-11-30

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