Carbonic anhydrase II deficiency a novel mutation.
Copyright policy )Carbonic anhydrase II deficiency a novel mutation.
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12 year old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.
Male, Mutation, Missense, Brain Diseases, Metabolic, Inborn, Calcinosis, India, Genes, Recessive, Acidosis, Renal Tubular, Carbonic Anhydrase III, Pedigree, Osteopetrosis, Humans, Point Mutation, Child, Tomography, X-Ray Computed
Male, Mutation, Missense, Brain Diseases, Metabolic, Inborn, Calcinosis, India, Genes, Recessive, Acidosis, Renal Tubular, Carbonic Anhydrase III, Pedigree, Osteopetrosis, Humans, Point Mutation, Child, Tomography, X-Ray Computed
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).13 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!