Molecular basis of human carbonic anhydrase II deficiency.

Documenti analoghi

• Polymorphic gene for human carbonic anhydrase II: a molecular disease marker located on chromosome 8.
  di: Venta, P J, et al.
  Pubblicazione: (1983)
• 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.
  di: Venta, P J, et al.
  Pubblicazione: (1991)
• Molecular analysis of G+C-rich upstream sequences regulating transcription of the human carbonic anhydrase II gene.
  di: Shapiro, L H, et al.
  Pubblicazione: (1987)
• Nucleotide sequence of human liver carbonic anhydrase II cDNA.
  di: Montgomery, J C, et al.
  Pubblicazione: (1987)
• Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
  di: Hu, P. Y., et al.
  Pubblicazione: (1994)