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

The carbonic anhydrase II deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include mental retardation, growth failure, and dental malocclusion. More than 30 cases of this disorder, termed carbonic a...

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