Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification (Q24600356)
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(P1476) "Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification" (language: en)
(P2093) W S Sly
D Hewett-Emmett
Y S Yu
R E Tashian
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