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. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713

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(a) Sanger sequencing of the homozygous variant c.526C>T (p.R176*) in patients 1 and 2 of family 1. Both parents are heterozygous carriers. (b) Sequence of the homozygous variant c.419_420insAAA (p.Tyr139_Asn140insLys) in patients 3 and 4 of family 2. The mother carries a heterozygous change. (c) Breakpoint junction mapping in family 2. PCR and Sanger sequencing confirmed a 31.7 kb deletion that spans the first two coding exons of all NR1H4 isoforms. The deletion region is marked with a filled box. (d) All family 2 members except the mother carry this deletion. PCR was performed using forward and reverse primers indicated with arrow heads in d. Primer pair F1/R1b fails to amplify at the wild-type locus because the distance between them exceeds the limit of PCR reaction. Primer pair F1/R1 serves as control. NTC, no template control.