| 1 | ABLP, MTTP
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| Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
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| Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E.
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| Clin Genet 82(2):197-200. doi: 10.1111/j.1399-0004.2011.01828.x. Epub 2011 Dec 29. No abstract available. Erratum in: Clin Genet. 2012 Aug; 2012
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| 2 | ABLP, MTTP
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| Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
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| Sani MN, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N.
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| Ann Hepatol 10(2):221-6.
2011
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| 3 | ABLP, MTTP
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| A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
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| Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.
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| Hum Mutat 32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6.
2011
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| 4 | ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
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| Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
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| Rahalkar AR, Hegele RA.
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| Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
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| 5 | ABLP, MTTP
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| Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.
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| Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H.
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| Arterioscler Thromb Vasc Biol 19(8):1950-5 1999
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| 6 | ABLP, MTTP
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| A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
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| Rehberg EF, et al.
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| J Biol Chem 271 : 29945-29952. 1996
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| 7 | ABLP, MTTP
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| Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
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| Narcisi TME, et al.
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| Am J Hum Genet 57 : 1298-1310. 1995
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| 8 | ABLP, MTTP
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| Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.
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| Shoulders CC, et al.
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| Hum Mol Genet 2 : 2109-2116. 1993
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| 9 | ABLP, MTTP
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| Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.
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| Sharp D, et al.
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| Nature 365 : 65-69. 1993
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| 10 | ABLP, MTTP
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| Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.
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| Wetterau JR, et al.
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| Science 258 : 999-1001. 1992
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