Fig. 3.

Detection of the 482 A-to-G substitution in the E1α gene. PCR-amplified products (206 bp) of exon 5 were digested by Fau I, which creates two fragments of 108 bp and 98 bp in the case of the mutated sequence (Lane 1, Marker; Lane 2, Normal subject; Lane 3, Patient (heterozygous); and Lane 4, Patient's mother).