Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

@article{Amsellem2002IntronicMO,
  title={Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia},
  author={Sabine Amsellem and Doroth{\'e}e Briffaut and Alain Carri{\'e} and Jean Pierre Rab{\`e}s and Jean Philippe Girardet and Alexandre Fredenrich and Philippe Moulin and Michel Krempf and Yves Reznik and Bernard Vialettes and J. L. de Gennes and Eric Brukert and Pascale Benlian},
  journal={Human Genetics},
  year={2002},
  volume={111},
  pages={501-510}
}
Familial hypercholesterolemia (FH), a frequent monogenic condition complicated by premature cardiovascular disease, is characterized by high allelic heterogeneity at the low-density lipoprotein receptor (LDLR) locus. Despite more than a decade of genetic testing, knowledge about intronic disease-causing mutations has remained limited because of lack of available genomic sequences. Based on the finding from bioinformatic analysis that Alu repeats represent 85% of LDLR intronic sequences outside… CONTINUE READING

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