Figure 2. Sequence chromatograms. The
forward and reverse sequence chromatograms of (A) unaffected
individual 9 of PKGL021, (B) individual 5 of PKGL021,
heterozygous and (C) individual 7 of PKGL021, homozygous for a
C→G transversion in exon 3, c.1122C>G, resulting in a; p.D374E, (D)
individual 8 of PKGL022, heterozygous and (E) individual 10 of
PKGL022, homozygous for G→A transition in exon2, c.685G>A, resulting
in mutation p.E229K, (F) individual 8 of PKGL022, heterozygous
and (G) individual 10 of PKGL022, homozygous for a T→C
transition in exon 3: c.1460T>C resulting in a; p.L487P (H)
unaffected individual 21 of PKGL026, (I) individual 7 of
PKGL026, heterozygous, and (J) individual 16 of PKGL026,
homozygous for a T→G transversion in exon 2: c.530T>G: resulting in
p. L177R.