Complex genetic architecture in severe hypobetalipoproteinemia

Complex genetic architecture in severe hypobetalipoproteinemia

Abstract 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 mor...

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Bibliographic Details
Main Authors: Linda R. Wang, Adam D. McIntyre, Robert A. Hegele
Format: Article
Language:English
Published: BMC 2018-03-01
Series:Lipids in Health and Disease
Subjects:
Hypobetalipoproteinemia
Abetalipoproteinemia
DNA mutations
DNA sequencing
Oligogenic trait
Complex trait
Online Access:http://link.springer.com/article/10.1186/s12944-018-0680-1

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http://link.springer.com/article/10.1186/s12944-018-0680-1

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