Haplotype reconstruction with genetic markers in DNAJC5.
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Two informative homozygous discordant genotypes close to the Leu116del change indicate that the Parry family does not share a haplotype with either of the two families reported in Noskova et al supporting a mutational hotspot rather than a founder effect. Grey: Noskova et al [4] haplotypes; Red: Discordant homozygous genotypes; all markers appear in their genomic order from centromere to telomere.
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2015-12-02
