Article
Complex genetic architecture in severe hypobetalipoproteinemia.
Lipids in health and disease - 14 Mar 2018
Wang Linda R, McIntyre Adam D, Hegele Robert A
Abstract excerpt
BACKGROUND: Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively. Instances of more complex patterns of genomic variants resulting in this distinct phenotype have not been reported. METHODS: A 43 year-old...
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