Figure 2
From: Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria
Typical skin lesions and mutations of the ADAR1 gene. (A, B) A mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of hands and feet of the proband of family 4 (III1); (C-G, I-J) Direct DNA sequencing showing the five novel mutations in the family 1–5 (C-G) and the two recurrent mutations in family 6 and 7 (I, J), respectively; (H) ClustaIW multiple alignment of various species around residue 1001 of human ADAR1.