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

doi:10.2739/kurumemedj.41.233

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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 wa...

Topics

Acidosis, Renal Tubular
Brain Diseases
Calcinosis
Carbonic Anhydrases
Female
Humans
Infant
Mutation
Osteopetrosis
Syndrome

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