Article
The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).
Prenatal diagnosis - 1 Dec 1997
Heath K E, Luong L A, Leonard J V, Chester A, Shoulders C C, Scott J, Middleton-Price H R, Humphries S E, Talmud P J
Abstract excerpt
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...
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