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Article

Molecular basis of human carbonic anhydrase II deficiency.

1 Mar 1992

Abstract excerpt

Deficiency of carbonic anhydrase II (carbonate hydro-lyase, EC 4.2.1.1) is the primary defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. In this report we describe the molecular basis for carbonic anhydrase II deficiency in the American family in which the association of carbonic anhydrase II deficiency with this syndrome was first recognized. The three affected siblings...

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Identifiers

PMID: 1542674
DOI: 10.1073/pnas.89.5.1804

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Molecular basis of human carbonic anhydrase II deficiency.PMID 1542674Read ↗

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