Additional file 1.

Analysis of the MTTP gene. The chromatogram show the partial sequence of exon 18 in the proband II.1 (family E). In above, the normal MTTP gene sequence (reference NM_000253). In the below, mutant sequence show the homozygous state of the novel nucleotide deletion (c. 2611delC) and the frameshift in the mRNA. The predicted translation product of the mutant MTTP gene is a non functional protein of 898 amino acids (p.H871I fsX29) lacking the last 23 functional amino-acids.

Format: PPT Size: 60KB Download file

This file can be viewed with: Microsoft PowerPoint Viewer

Najah et al. Diagnostic Pathology 2013 8:54   doi:10.1186/1746-1596-8-54