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

[1] Zamel R(2008)Abetalipoproteinemia: two case reports and a literature review Orphanet J Rare Dis 3 19-27

[2] Khan R(2007)Molecular diagnosis of hypobetalipoproteinemia: an ENID review Atherosclerosis 195 19-1001

[3] Pollex RL(1992)Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia Science 258 999-2116

[4] Hegele RA(1993)Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein Hum Mol Genet 2 2109-32

[5] Tarugi P(2003)Microsomal triglyceride transfer protein and its role in ApoB-lipoprotein assembly J Lipid Res 44 22-408

[6] Averna M(2012)Multiple functions of microsomal triglyceride transfer protein Nutr Metab 9 14-3164

[7] Di Leo E(1999)The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenicc lipoproteins J Mol Biol 285 391-56

[8] Cefalù AB(1999)A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase J Biol Chem 274 3159-759

[9] Noto D(2009)Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia Clin Chim Acta 401 51-295

[10] Magnolo L(2011)A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP) Hum Mutat 32 751-1204

[1] Zamel R(2008)Abetalipoproteinemia: two case reports and a literature review Orphanet J Rare Dis 3 19-27

[2] Khan R(2007)Molecular diagnosis of hypobetalipoproteinemia: an ENID review Atherosclerosis 195 19-1001

[3] Pollex RL(1992)Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia Science 258 999-2116

[4] Hegele RA(1993)Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein Hum Mol Genet 2 2109-32

[5] Tarugi P(2003)Microsomal triglyceride transfer protein and its role in ApoB-lipoprotein assembly J Lipid Res 44 22-408

[6] Averna M(2012)Multiple functions of microsomal triglyceride transfer protein Nutr Metab 9 14-3164

[7] Di Leo E(1999)The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenicc lipoproteins J Mol Biol 285 391-56

[8] Cefalù AB(1999)A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase J Biol Chem 274 3159-759

[9] Noto D(2009)Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia Clin Chim Acta 401 51-295

[10] Magnolo L(2011)A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP) Hum Mutat 32 751-1204