Associated Papers
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.
Pang Q et al.
Metabolic Brain Disease, 2015
Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
Vivante A et al.
Nephron. Physiology, 2011
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN et al.
Human Mutation, 2004
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