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. 2018 May 3;102(5):874–889. doi: 10.1016/j.ajhg.2018.03.012

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Reconstructed Pedigree Prediction Containing 25/37 Carriers of the FH-Causing Tandem Duplication in LDLR

The pedigree also contains 20 non-carrier, related (first- or second-degree) individuals from the sequenced cohort. Carrier and non-carrier status was determined from the exome data from each individual. Elevated maximum LDL measurements (value under symbols) as well as increased prevalence of coronary artery disease (CAD, red fill) and pure hypercholesterolemia (ICD 272.0; blue) segregate with duplication carriers. Five additional carriers (not drawn) were found to be distant relatives (seventh- to ninth-degree relatives) of individuals in this pedigree.