Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

@article{Lehrman1986ExonAluRD,
  title={Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.},
  author={Mark A. Lehrman and D. W. Russell and Joseph L Goldstein and Michael Scott Brown},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1986},
  volume={83 11},
  pages={3679-83}
}
Among patients with familial hypercholesterolemia, half of the mutant alleles at the low density lipoprotein (LDL) receptor locus produce no immunologically detectable protein. To determine the molecular basis for one such null allele, we have cloned an abnormally short restriction fragment from the genomic DNA of one patient. The DNA sequence revealed a 5-kilobase deletion that joins a coding sequence in exon 13 to an Alu repetitive element in intron 15. The deletion joint is flanked by two… CONTINUE READING
31 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 31 extracted citations

Similar Papers

Loading similar papers…