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. 2024 May 16;7:577. doi: 10.1038/s42003-024-06283-6

Table 3.

Genetic characteristics of PXE patients

ABCC6 gene mutation
Patient Intron/Exon Nucleotide/Amino Acid variation Intron/Exon Nucleotide/Amino Acid variation
#1 19 c.2458 G > C; p.Ala820Pro IVS26 c.3736-1 G > A
#2 23 c.3088 C > T; p.Arg1030* IVS17 c.2248-2_2248-1delAG
#3 12 c.1553 G > A; p.Arg518Gln 24 c.3421 C > T; p.Arg1141*