Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene
Keywords: WD, Wilson's disease; HUGO, Human Genome Organisation; AST, aspartate aminotransferase; ALT, alanine aminotransferase; γGT, gamma-glutamyl transferaseATP7B; Deletion; Alternative splicing; Exonization; Wilson's disease; Diagnosis