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
A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.
Soda H et al.
Human Genetics, 1996
Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).
Soda H et al.
Human Mutation, 1995
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies.
Soda H
The Kurume Medical Journal, 1994
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