title: Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
authors.affiliation: Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, Missouri, USA.
authors.forename: P Y
authors.initials: PY
authors.lastname: Hu
authors.forename: E J
authors.initials: EJ
authors.lastname: Lim
authors.forename: J
authors.initials: J
authors.lastname: Ciccolella
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
authors.forename: W S
authors.initials: WS
authors.lastname: Sly
mesh_terms: D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D002256:Carbonic Anhydrases