A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.
Majumdar
Ramanath
R
Neurogenetics Laboratory, Division of Neurology, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
Al-Jumah
Mohammed
M
Zaidan
Radwan
R
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
D000227:Adenine Nucleotides; D006150:Guanine Nucleotides; D003300:Copper