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Article

Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies.

The Kurume medical journal - 1 Jan 1994

Soda H

Abstract excerpt

We reported on three unrelated Japanese families with carbonic anhydrase II (CA II) deficiency syndrome. In the present study, the CA II gene was sequenced in the family of a patient with hybrid type renal tubular acidosis whose parents were nonconsanguineous, and a T to G transition at exon 2 was identified. The change results in the substitution of the stop codon (TAG) at position 40 for Tyr (TAT). The maternal...

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Identifiers

PMID: 7700057
DOI: 10.2739/kurumemedj.41.233

Genes

TAT

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