Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population

MeSH terms

• Adenosine Triphosphatases / genetics*
• Amino Acid Substitution
• Carrier Proteins / genetics*
• Cation Transport Proteins*
• Copper-Transporting ATPases
• DNA / chemistry
• DNA / genetics
• DNA Mutational Analysis
• Family Health
• Female
• Founder Effect
• Frameshift Mutation
• Hepatolenticular Degeneration / genetics*
• Humans
• Japan
• Male
• Mutation
• Mutation, Missense
• Pedigree
• Sequence Deletion