Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia

John R. Wetterau, Lawrence P. Aggerbeck, Marie-Elisabeth Bouma et al. · Science · 1992 · 759 citations

Life Sciences, Biochemistry, Molecular Biology +14

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Daru Sharp, Laura Blinderman, Kelly A. Combs et al. · Nature · 1993 · 503 citations

Life Sciences, Biochemistry, Molecular Biology +14

Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice

Martin Raabe, Murielle M. Véniant, Meghan A. Sullivan et al. · Journal of Clinical Investigation · 1999 · 425 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

Carol C. Shoulders, David Brett, Jayne D. Bayllss et al. · Human Molecular Genetics · 1993 · 247 citations

Life Sciences, Biochemistry, Genetics +14