Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene

Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene

Screening for structural alterations of the low density lipoprotein (LDL) receptor gene by Southern blot analysis revealed an abnormal band pattern in one subject with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The molecular defect was further characterized by polymerase...

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Bibliographic Details
Main Authors:	Olaug K. Rødningen, Serena Tonstad, Jheem D. Medh, David A. Chappell, Leiv Ose, Trond P. Leren
Format:	Article
Language:	English
Published:	Elsevier 1999-02-01
Series:	Journal of Lipid Research
Subjects:	deletion familial hypercholesterolemia homozygous FH low density lipoprotein receptor
Online Access:	http://www.sciencedirect.com/science/article/pii/S0022227520333599

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