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
Mechanism of Action of Non-Synonymous Single Nucleotide Variations Associated with α-Carbonic Anhydrase II Deficiency.
Sanyanga TA et al.
Molecules (basel, Switzerland), 2019
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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