Figure 4. Partial nucleotide sequences of exon 2 of the NDP gene in affected, unaffected and heterozygous family members.

The forward (A) and the reverse (B) sequences of the affected family members show the AAT deletion at position c. -1-_2. The forward (C) and the reverse (D) sequences of the other unaffected family members and the general population show no nucleotide changes. The forward (E) and the reverse (F) sequences of the patients' mothers and grandmother show heterozygous AAT deletion.