Figure 3

Sequence data of mutations. (A) The sequence comparison between the normal (upper) and mutated sequence (lower) clearly shows the base exchange of T to C in exon 7, resulting in an amino acid exchange from Leu to Pro (Patient 1). (B) A sequence comparison between the normal (upper) and mutated sequence (lower) reveals a base exchange of G to A in exon 5, resulting in an amino acid exchange from Glu to Lys (Patient 4).