Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
Ohya
Kazuhiro
K
Abo
Wataru
W
Tamaki
Hisamitsu
H
Sugawara
Chieko
C
Endo
Tetsuya
T
Nomachi
Shosuke
S
Fukushi
Masaru
M
Kinebuchi
Miyuki
M
Matsuura
Akihiro
A
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005820:Genetic Testing / Q000379:methods; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011379:Prognosis; D012720:Severity of Illness Index; D013997:Time Factors
D000251:Adenosine Triphosphatases