Diagram (IMAGE)

Hiroshima University

Diagram

Caption

(A) Sequencing results and familial segregation of previously unidentified homozygous RORC mutations in three unrelated consanguineous families, indicating an autosomal recessive pattern of inheritance. All seven patients were born of consanguineous parents. (B) Graphical representation of the RORγ and RORγT proteins, encoded by RORC. Arrows indicate the location of the sites affected by the RORC mutations found in the families investigated in this study. DBD: DNA binding domain, LBD: ligand binding domain, AF2: activation function 2.

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Hiroshima University

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