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Research Article
Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
  1. S Keidar,
  2. A Etzioni,
  3. J G Brook,
  4. R Gershoni-Baruch,
  5. M Aviram
  1. Lipid Research Centre, Rambam Medical Centre, Haifa, Israel.

    Abstract

    A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial hypobetalipoproteinaemia, but his father had a normal lipoprotein profile. This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.

    https://doi.org/10.1136/jmg.27.2.133

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