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. 2000 Sep 1;116(3):449–462. doi: 10.1085/jgp.116.3.449

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© 2000 The Rockefeller University Press

This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/4.0/).

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AvaI restriction analysis for εA411P and allele-specific PCR (ASP) for ε1293insG and εT159P of genomic DNA of propositi (arrows) and family members. (A–C) Families 1–3. Closed and open arrowheads point to mutant and wild-type fragments, respectively. Closed symbols indicate affected individuals carrying two mutant alleles; half-shaded symbols represent asymptomatic carriers harboring a single mutant allele. (C) The short fragments (*) represent the previously described εIVS11+10del20 polymorphism in intron 11 of the ε subunit gene, which has an allelic frequency of 22/248.