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Figure 1 PAH gene mutation sequences
(A) Sequence map of the p.R53H (c.158G>A) PAH gene mutation. (B) Sequence map of the p.R243Q (c.728G>A) PAH gene mutation. (C) Sequence map of the IVS7+2T>A (c.842+2T>A) PAH gene mutation. (D) Sequence map of the p.R111X (c.331C>T) PAH gene mutation. (E) Sequence map of the p.Y204C (c.611A>G) PAH gene mutation. (F) Sequence map of the p.R413P (c.1238G>C) PAH gene mutation. : p.R413P homozygous mutation; : p.R413P heterozygous mutation (arrow indicates the mutation site; horizontal line shows the codon).
Figure 2 Sequence maps of PAH gene mutations
(A) Sequence map of the p.A47E (c.140C>A) PAH gene mutation. (B) Sequence map of the p.I65S (c.194T>G) PAH gene mutation. (C) Sequence map of the p.A259T (c.775G>A) PAH gene mutation.
, Figure 3 Sequence maps of exons 10, 2, and 7 of the PAH gene
(A) Sequencing map of exon 10 of the PAH gene; p.C334X mutation (c.1002C>A, arrow indicates the mutation site; horizontal line shows the codon); normal gene sequence. (B) Sequencing map of exon 2 of the PAH gene; p.G46D mutation (c.137G>A, arrow indicates the mutation site; horizontal line shows the codon); normal gene sequence. (C) Sequence map of exon 7 of the PAH gene; p.G256D mutation (c.767G>A, arrow indicates the mutation site; horizontal line shows the codon); normal gene sequence.