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. 2012 Feb 15;97(5):E771–E774. doi: 10.1210/jc.2011-2414

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Copyright © 2012 by The Endocrine Society

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/us/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 2. — Pedigree and sequencing results of MC1R and MC2R for the patient and family members. The affected proband (black symbol and arrow) was homozygous for the indicated mutations. Unaffected parents and siblings (white symbols) were all heterozygous or wild-type for the mutations. Uncharacterized individuals are represented by gray symbols. Changes c.455C>A in MC2R (upper chromatograms) and c.478C>T in MC1R (lower chromatograms) are shown. Homozygous mutant and heterozygous and homozygous wild-type nucleotides are indicated by red, blue, and black arrows, respectively. Wild-type sequences from an unrelated control are indicated in the extreme right panels.