Article
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
Molecular genetics and metabolism - 1 Apr 2007
Benayoun Liat, Granot Esther, Rizel Leah, Allon-Shalev Stavit, Behar Doron M, Ben-Yosef Tamar
Abstract excerpt
Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene. We investigated the genetic basis for ABL in a cohort of Israeli families. In Ashkenazi Jewish patients we identified a conserved haplotype and a common...
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