Title : Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) - Langlois_1988_Am.J.Hum.Genet_43_60 |
Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
Ref : American Journal of Human Genetics , 43 :60 , 1988 |
Abstract :
Two hundred thirty-four unrelated heterozygotes for familial hypercholesterolemia (FH) were screened to detect major rearrangements in the low-density-lipoprotein (LDL) receptor gene. Total genomic DNA was analyzed by Southern blot hybridization to probes encompassing exons 1-18 of the LDL receptor gene. Six different mutations were detected and characterized by the use of exon-specific probes and detailed restriction mapping. Each mutation is unique and suggests that molecular heterogeneity underlies the molecular pathology of FH. There appear to be preferential sites within the LDL receptor gene for major rearrangements resulting in deletions. |
PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_60 |
PubMedID: 2837085 |
Disease | Hyperlipoproteinemia TypeI |
Langlois S, Deeb S, Brunzell J, Kastelein JJ, Hayden MR (1988)
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)
American Journal of Human Genetics
43 :60
Langlois S, Deeb S, Brunzell J, Kastelein JJ, Hayden MR (1988)
American Journal of Human Genetics
43 :60