SEARCH

SEARCH BY CITATION

FilenameFormatSizeDescription
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.

Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.