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Journal List > J Med Genet > v.27(2); Feb 1990

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J Med Genet. 1990 February; 27(2): 133–134.
PMCID: PMC1016936
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Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
S Keidar, A Etzioni, J G Brook, R Gershoni-Baruch, and M Aviram
Lipid Research Centre, Rambam Medical Centre, Haifa, Israel.
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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.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950 Apr;5(4):381–387. [PubMed]
  • SALT HB, WOLFF OH, LLOYD JK, FOSBROOKE AS, CAMERON AH, HUBBLE DV. On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. Lancet. 1960 Aug 13;2(7146):325–329. [PubMed]
  • Aviram M, Deckelbaum RJ, Brook JG. Platelet function in a case with abetalipoproteinemia. Atherosclerosis. 1985 Nov;57(2-3):313–323. [PubMed]
  • Biemer JJ, McCammon RE. The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family. J Lab Clin Med. 1975 Apr;85(4):556–565. [PubMed]
  • Berger GM, Brown G, Henderson HE, Bonnici F. Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. J Med Genet. 1983 Jun;20(3):189–195. [PubMed]
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