Figure 3.
Pedigrees and electropherograms of five RP10 families with IMPDH1 mutations. All families are of American origin with the exception of UTAD278, which is a British family. (A) UTAD045, Asp226Asn; (B) RFS015, Asp226Asn; (C) UTAD278, Asp226Asn; (D) UTAD177, Asp226Asn; and (E) UTAD389, Val268Ile. Closed symbols represent affected individuals, question marks represent possibly affected individuals, and open symbols represent unaffected individuals. Tested individuals in each family are indicated by a star.