Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr-40 in exon 2, (Y40X)

The Metabolic Basis of Inherited Disease

John T. Garland · JAMA · 1990 · 658 citations

Life Sciences, Genetics, Molecular Genetics +13

Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

William S. Sly, Michael P. Whyte, Vasantha Sundaram et al. · New England Journal of Medicine · 1985 · 328 citations

Life Sciences, Biochemistry, Genetics +6

Molecular basis of human carbonic anhydrase II deficiency.

Donna E. Roth, Patrick J. Venta, Richard E. Tashian et al. · Proceedings of the National Academy of Sciences · 1992 · 119 citations

Life Sciences, Genetics, Molecular Genetics +14

Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.

Patrick J. Venta, Rosalind J Welty, Tony M. Johnson et al. · PubMed · 1991 · 89 citations

Life Sciences, Genetics, Molecular Genetics +11

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries

Peiyi Hu, Donna E. Roth, Laura A. Skaggs et al. · Human Mutation · 1992 · 76 citations

Life Sciences, Genetics, Molecular Genetics +16