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Researchers identify gene for fatal cholesterol disorder

BMJ 1997; 315 doi: https://doi.org/10.1136/bmj.315.7100.75c (Published 12 July 1997) Cite this as: BMJ 1997;315:75
  1. Susan Mayor
  1. London

    Researchers have identified the gene responsible for an inherited disease characterised by abnormal accumulation of cholesterol–namely, Niemann-Pick C disease. Learning how the gene functions offers the first real hope for effective treatment of this fatal condition and gives new insight into how cholesterol is metabolised.

    A team from the National Institute of Neurological Disorders and Stroke at the National Institutes of Health in Bethesda, Maryland, located the gene–NPC1–by a combination of approaches including positional cloning techniques and a strategy using yeast artificial chromosomes containing large pieces of human DNA to pinpoint the region on chromosome 18 (Science 1997;277:229-31).

    Thirty families with nearly 80 members with Neimann-Pick C disease took part in the study, …

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