Identification of a deletion in the LDL receptor gene A Finnish type of mutation

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.1986 · 165 citations
2. 2Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.1987 · 228 citations
3. 3The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.1987 · 283 citations
4. 4Polymorphic DNA region adjacent to the 5' end of the human insulin gene.1981 · 901 citations
5. 5Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.1985 · 64 citations