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. 2014 Aug 14;9(8):e104838. doi: 10.1371/journal.pone.0104838

Figure 1. Genetic information on 5 subjects carrying NR5A1 mutations.

Figure 1

A. Family trees of 4 families and 7 affected individuals (5 patients and 2 parents) are shown. Scheme of the NR5A1 gene showing the mutations identified in the reported patients (above the scheme) and all reported SF-1 mutations causing adrenal insufficiency (below the scheme). Electropherograms of novel mutations are also depicted. The NR5A1 gene is composed of coding (black) and non-coding sequences (gray). Exons are indicated by numbers.