Fig. 2From: Complex genetic architecture in severe hypobetalipoproteinemiaPedigree showing nuclear family members studied, with selected phenotypes and inheritance of rare mutations identified. Proband indicated by arrow. Abbreviations: as in Table 1, plus LDL, low-density lipoprotein; HDL, high-density lipoprotein; ND, not determined; und, undetectable; U/L, units per litre. Reference ranges for alanine transaminase and creatine kinase are < 42 U/L and < 145 U/L, respectively. Extended haplotypes for the APOB locus are shown; chromosomal phase was determined unequivocally and 3 distinct haplotypes (arbitrarily designated 1-3) are shown. APOB haplotypes are indicated in boxes; the likely pathogenic haplotypes are shaded grey. Also, genotypes for variants in Table 1 for MTTP, PCSK9, SAR1B and ANGPTL3 genes are shownBack to article page