Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

• Authors: H Soda, S Yukizane, I Yoshida, S Aramaki, H Kato
• Journal: Human mutation (Hum Mutat) Vol. 5 Issue 4 Pg. 348-50 ( 1995) ISSN: 1059-7794 [Print] United States
• PMID: 7627193 (Publication Type: Case Reports, Journal Article)

Chemical References

• Tyrosine
• Carbonic Anhydrases

Topics

• Acidosis, Renal Tubular (genetics)
• Adult
• Brain Diseases (genetics)
• Calcinosis (genetics)
• Carbonic Anhydrases (blood, deficiency, genetics)
• Clone Cells
• DNA Mutational Analysis
• Exons
• Female
• Humans
• Intellectual Disability (genetics)
• Japan
• Mutation
• Polymerase Chain Reaction
• Syndrome
• Tyrosine (genetics)