Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Disease Mechanism, Genetic Disorder, Genetics +6

Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia

John R. Wetterau, Lawrence P. Aggerbeck, Marie-Elisabeth Bouma et al. · Science · 1992 · 756 citations

Metabolic Syndrome, Abetalipoproteinemic Subjects, Lipid Disorder +15

Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes

Martin Raabe, L. M. Flynn, Constance Zlot et al. · Proceedings of the National Academy of Sciences · 1998 · 258 citations · Full text

Multiple functions of microsomal triglyceride transfer protein

M. Mahmood Hussain, Paul Rava, Meghan T. Walsh et al. · Nutrition & Metabolism · 2012 · 250 citations · Full text

Lipid Transfer Activity, Signal Transduction, Biochemistry +11