Study of a female patient with ornithine transcarbamylase deficiency: detection of a nonsense mutation.
Hata
A
A
Department of Biochemistry, Kumamoto University Medical School, Japan.
Matsuura
T
T
Setoyama
C
C
Shimada
K
K
Takeda
E
E
Kuroda
Y
Y
Akaboshi
I
I
Matsuda
I
I
D000293:Adolescent; D001483:Base Sequence; D004247:DNA / Q000096:biosynthesis; D003933:Diagnosis; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006801:Humans; D009154:Mutation; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D013489:Suppression, Genetic
D004247:DNA