Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9157718 | Atherosclerosis | 2005 | 8 Pages |
Abstract
The third proband (D.F.) had a less severe lipoprotein phenotype which was similar to that of heterozygous FHBL and appeared to be inherited as a co-dominant trait. However, he had no mutations in apo B gene. He was found to be a compound heterozygote for two missense mutations (D384A and G661A), involving highly conserved regions of MTP. Since this proband was also homozygous for É2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform.
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Authors
Enza Di Leo, Sandra Lancellotti, Junia Y. Penacchioni, Angelo B. Cefalù, Maurizio Averna, L. Pisciotta, Stefano Bertolini, Sebastiano Calandra, Carlo Gabelli, Patrizia Tarugi,