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. 2020 Apr 28;26:334–344.

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Copyright © 2020 Molecular Vision.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.

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Bidirectional Sanger sequencing identified mutations in FYCO1 in chromosome 3p21-linked pedigrees. A, B: Forward and reverse sequence chromatograms of individual 18 (unaffected) harboring the wild-type allele and individual 11 (affected) homozygous for a single base change: c.4270C>T (p.Arg1424Ter) in PKCC193. C, D: Forward and reverse sequence chromatograms of individual 7 (unaffected) harboring the wild-type allele and individual 10 (affected) homozygous for a single base deletion: c.3196delC (p.His1066IlefsTer10) in PKCC202. E, F: Forward and reverse sequence chromatograms of individual 6 (unaffected) heterozygous for a single base change and individual 7 (affected) homozygous for a single base substitution: c.4127T>C (p.Leu1376Pro) in PKCC220. Note: The arrows point to the base-pair substitution or deletion identified in each pedigree.