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Roth et al., 1992 - Google Patents

Molecular basis of human carbonic anhydrase II deficiency.

Roth et al., 1992

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Document ID
15372032192026069404
Author
Roth D
Venta P
Tashian R
Sly W
Publication year
Publication venue
Proceedings of the National Academy of Sciences

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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 …
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