<i>EFEMP1</i> variant analysis.

<p>(<b>A</b>) Sanger sequence trace of the wild-type allele showing translation of arginine at codon 140 (CGG). ^ indicates cut-site for <i>Hpa</i> II. (<b>B</b>) Sanger sequence trace of the mutant allele showing the heterozygous C-to-T transition (denoted Y by the International Union of Pure and Applied Chemistry [IUPAC]) that is predicted to result in the missense substitution of arginine to tryptophan (TGG). (<b>C</b>) Allele-specific restriction fragment length analysis showing loss of an <i>Hpa</i> II restriction-site (5’-C^CGG) that co-segregated with affected individuals heterozygous for the C>T transition (300 bp). M, molecular mass markers (bp). Question marks indicate unconfirmed disease status. Filled symbols indicate affected status. Shaded symbols indicate disease haplotype.