Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
Representative electropherograms of the mutations found in the patient. The mutations are shown by arrows. (a) g.185A>T (p.H62L) mutation. (b) Reverse complement electropherogram showing the deduced presence of g.185A>T (p.H62L) on the allele carrying the g.562_568delG polymorphism. (c) IVS2-13 A/C>G mutation on the homologous allele.
Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.