title: A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.
authors.affiliation: Neurogenetics Laboratory, Division of Neurology, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
authors.forename: Ramanath
authors.initials: R
authors.lastname: Majumdar
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Jumah
authors.forename: Radwan
authors.initials: R
authors.lastname: Zaidan
mesh_terms: D000227:Adenine Nucleotides / Q000235:genetics; D000328:Adult; D003300:Copper / Q000378:metabolism; D004252:DNA Mutational Analysis; D005091:Exons; D006150:Guanine Nucleotides / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D000227:Adenine Nucleotides; D006150:Guanine Nucleotides; D003300:Copper