Associated Papers
Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.
Shaik NA et al.
Journal of Biomolecular Structure & Dynamics, 2020
Effect of disease-linked mutations on the structure, function, stability and aggregation of human carbonic anhydrase II.
Gupta P et al.
International Journal of Biological Macromolecules, 2020
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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