TY - JOUR T1 - Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. JF - Journal of Medical Genetics JO - J Med Genet SP - 133 LP - 134 DO - 10.1136/jmg.27.2.133 VL - 27 IS - 2 AU - S Keidar AU - A Etzioni AU - J G Brook AU - R Gershoni-Baruch AU - M Aviram Y1 - 1990/02/01 UR - http://jmg.bmj.com/content/27/2/133.abstract N2 - 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. ER -