Table 1 Genetic analysis of the patient’s ATP7B gene mutations
Exon score | Location | Nucleotide mutation | Amino acid alteration | Allele | Known pathogenic |
|---|---|---|---|---|---|
8 | 2333 | G > T | p.Arg778Lcu | Heterozygote | Mutations |
11 | 2621 | C > T | p.Ala874Val | Heterozygote | Suspicious pathogenic mutations |