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• W1966203169 abstract "Abetalipoproteinaemia is a rare autosomal-recessive disorder caused by a defect in the large subunit of the microsomal triglyceride transfer protein (MTP) which is required for the assembly and secretion of apolipoprotein B-containing lipoproteins. We report here the use of a polymorphic CA dinucleotide repeat in intron 10, MTPIVS10, of the large subunit of the human MTP protein in the analysis of a pregnancy in a consanguineous family, in which abetalipoproteinaemia was suspected, although prenatal diagnosis was subsequently refused. The mutation in the family has been identified as a novel four-nucleotide insertion/duplication of exon 17 between nucleotides 2349 and 2350 of the cDNA sequence of the MTP gene. However, the marker, MTPIVS10, can be used as an alternative to the time-consuming mutation detection techniques. © 1997 by John Wiley & Sons, Ltd." @default.
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• W1966203169 date "1997-12-01" @default.
• W1966203169 modified "2023-09-26" @default.
• W1966203169 title "The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)" @default.
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• W1966203169 doi "https://doi.org/10.1002/(sici)1097-0223(199712)17:12<1181::aid-pd205>3.0.co;2-a" @default.
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