3 research outputs found

    Pedigrees of consanguineous Pakistani glaucoma families, with a probable autosomal dominant inheritance pattern.

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    <p>Segregation analysis of three nonsynonmous variants: (<b>1A)</b> represents segregation of p.Arg49Cys, <b>(1B)</b> segregation of p.Arg237Gly change, <b>(1C)</b> shows p.Arg453Cys variant segregation, Variant allele is indicated with an “M1(p.Arg49Cys), M2(p.Arg237Gly) and M3(p.Arg453Cys)”, and the wildtype allele indicated with “WT” for the three variations. This demonstrates that the variants do not segregate with the disease in the respective families. The proband is indicated with an arrow.</p
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