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.
Am J Hum Genet. 1991 Nov;49(5):1082-90.
Am J Hum Genet. 1991.
PMID: 1928091
Free PMC article.