Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Hum Mutat. 1997;9(5):383-7. doi: 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5.
No abstract available

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Carbonic Anhydrases / deficiency*
  • Carbonic Anhydrases / genetics
  • Female
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Syndrome

Substances

  • Carbonic Anhydrases