Hypobetalipoproteinemia associated with apo B-48.4, a truncated protein only 14 amino acids longer than apo B-48.

Abstract excerpt

Familial hypobetalipoproteinemia is an autosomal codominant trait that can be caused by mutations in the apo B gene. Here we report a novel apo B gene mutation causing hypobetalipoproteinemia, that is associated with the synthesis of a truncated apo B protein in a young healthy male subject and his mother. The mutation is an A deletion at position 6627 of the apo B cDNA leading to a truncated protein of 2166...

Topics

• Adult
• Aged
• Apolipoprotein A-I
• Apolipoprotein A-II
• Apolipoprotein B-48
• Apolipoprotein C-II
• Apolipoprotein C-III
• Apolipoproteins B
• Apolipoproteins C
• Apolipoproteins E
• Base Sequence