Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).
Soda
H
H
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Yukizane
S
S
Yoshida
I
I
Aramaki
S
S
Kato
H
H
D000141:Acidosis, Renal Tubular / Q000235:genetics; D000328:Adult; D001927:Brain Diseases / Q000235:genetics; D002114:Calcinosis / Q000235:genetics; D002256:Carbonic Anhydrases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D002999:Clone Cells; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007564:Japan; D009154:Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014443:Tyrosine / Q000235:genetics
D014443:Tyrosine; D002256:Carbonic Anhydrases