Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia
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Journal of Medical Genetics
|February 1, 1990
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.