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