Concepedia

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia

Mohamed Najah, Enza Di Leo, Awatef Jelassi, Lucia Magnolo, Jgurim Imene, S. Barsaoui, Inès Brini, Moncef Feki, Mohamed Naceur Slimane, Patrizia Tarugi

Clinica Chimica Acta · 2008 · 29 citations · 33 references

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33

The metabolic and molecular bases of inherited disease

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

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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

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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

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Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.

T M Narcisi, Carol C. Shoulders, S A Chester et al. · PubMed · 1995 · 147 citations

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Hypobetalipoproteinemia Due to an Apolipoprotein B Gene Exon 21 Deletion Derived by Alu-Alu Recombination

Lei Huang, M E Ripps, Stanley H. Korman et al. · Journal of Biological Chemistry · 1989 · 116 citations · Full text

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