Article
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
American journal of human genetics - 1 Nov 1991
Venta P J, Welty R J, Johnson T M, Sly W S, Tashian R E
Abstract excerpt
Carbonic anhydrase II (CA II), which has the highest turnover number and widest tissue distribution of any of the seven CA isozymes known in humans, is absent from the red blood cells and probably from other tissues of patients with CA II deficiency syndrome. We have sequenced the CA II gene in a patient from a consanguinous marriage in a Belgian family and identified the mutation that is probably the cause of...
Topics
- Base Sequence
- Blotting, Western
- Carbonic Anhydrases
- Cloning, Molecular
- DNA
- DNA Mutational Analysis
- Deoxyribonucleotides
- Histidine
- Humans
- Hydrogen Bonding