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

[21] Gay G(2004)The c.419–420insA in the MTP gene is associated with abetalipopro- teinemia among French-Canadians Mol Genet Metab 81 140-1310

[22] Rader DJ(2011)Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia Annals Hepathol 2 221-30377

[23] Gregg RE(1995)A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfude-isomerase and causes abetalipoproteinemia J Biol Chem 270 14281-12274

[24] Shoulders CC(2007)Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient Mol Genet Metab 90 453-29952

[25] Brett DJ(1995)Mutations of the micro-somal triglyceride-transfer-protein gene in abetalipoproteinemia Am J Hum Genet 57 1298-989

[26] Bayliss JD(2000)A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein J Biol Chem 275 30372-545

[27] Narcisi TM(2007)Acquisition of triacylglycerol transfer activity by microsomal triglyceride transfer protein during evolution Biochemistry 46 12263-44

[28] Jarmuz A(1996)A novel abetalip-oproteinemia genotype. Identication of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfde isomerase J Biol Chem 271 29945-92

[29] Grantham TT(2009)Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases Eur J Pediatr 168 983-770

[30] Leoni PR(2005)Monogenic hypocholester-olaemic lipid disorders and apolipoprotein B metabolism Crit Rev Clin Lab Sci 42 515-8691

[21] Gay G(2004)The c.419–420insA in the MTP gene is associated with abetalipopro- teinemia among French-Canadians Mol Genet Metab 81 140-1310

[22] Rader DJ(2011)Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia Annals Hepathol 2 221-30377

[23] Gregg RE(1995)A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfude-isomerase and causes abetalipoproteinemia J Biol Chem 270 14281-12274

[24] Shoulders CC(2007)Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient Mol Genet Metab 90 453-29952

[25] Brett DJ(1995)Mutations of the micro-somal triglyceride-transfer-protein gene in abetalipoproteinemia Am J Hum Genet 57 1298-989

[26] Bayliss JD(2000)A mechanism of membrane neutral lipid acquisition by the microsomal triglyceride transfer protein J Biol Chem 275 30372-545

[27] Narcisi TM(2007)Acquisition of triacylglycerol transfer activity by microsomal triglyceride transfer protein during evolution Biochemistry 46 12263-44

[28] Jarmuz A(1996)A novel abetalip-oproteinemia genotype. Identication of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfde isomerase J Biol Chem 271 29945-92

[29] Grantham TT(2009)Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases Eur J Pediatr 168 983-770

[30] Leoni PR(2005)Monogenic hypocholester-olaemic lipid disorders and apolipoprotein B metabolism Crit Rev Clin Lab Sci 42 515-8691