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. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962

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© 2014 Zhou et al

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 author and source are properly credited.

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Electropherogram analysis of ABCA4 in family 2048 showing the compound heterozygous mutations (c.C2424G and c.G1819A) co-segregated with the phenotype. II1 and II2 patients harbored compound heterozygous c.C2424G and c.G1819A mutations of the ABCA4 gene. c.C2424G mutation was carried by the mother I2 while c.G1819A mutation was carried by the father I1.