trf12205-sup-0001-si.pdf86KFig. S1. Electropherograms from Proband 1. The left-hand panel shows part of the direct sequence obtained on DNA and the heterozygous peaks obtained after nucleotide 1971. The middle and right-hand panels show sequences of cloned amplicons, respectively, the variant allele with three Gs after nucleotide 1971 and the consensus allele with four Gs after nucleotide 1971.
trf12205-sup-0002-si.pdf82KFig. S2. Electropherogram of part of cDNA from Proband 2. The locations of the missense c.244T>C and the polymorphism c.578C>T (KEL*02 > KEL*01) changes are marked. Also marked is the location of the consensus c.382 nucleotide in codon 128CGA, which in the in trans allele is changed to TGA causing an Arg129Stop exchange.

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