Figure 2. The 10 most common genetic mutations found in 21-hydroxylase deficiency. The location and nature of each microconversion and the expected clinical phenotype (salt-losing [SL], non-salt-losing [NSL], and nonclassic congenital adrenal hyperplasia [NC]) are shown. The 10 exons and 9 introns of CYP21B are drawn to scale. Arg = arginine; Asn = asparagine; Asp = aspartate; Glu = glutamate; Ile = isoleucine; Leu = leucine; Lys = lysine; Met = methionine; Pro = proline; Trp = tryptophan; Val = valine.

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