Chapter 3 Clinical genetics/Fig 3.24.jpg

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Immunohistochemical staining for filaggrin in (A) normal skin and (B) skin from a patient with ichthyosis vulgaris. There is no staining for the filaggrin protein in the upper epidermis from the patient, because the patient is homozygous for the R501X mutation in the filaggrin gene, abolishing protein production. (Courtesy of Professor McLean.)