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.

Ítems similars

• Molecular basis of human carbonic anhydrase II deficiency.
  per: Roth, D E, et al.
  Publicat: (1992)
• Identification of three crucial histidine residues (His(115), His(132) and His(297)) in porcine deoxyribonuclease II
  per: Cheng, Yu-Che, et al.
  Publicat: (2006)
• Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
  per: Hu, P. Y., et al.
  Publicat: (1994)
• Nucleotide sequence of human liver carbonic anhydrase II cDNA.
  per: Montgomery, J C, et al.
  Publicat: (1987)
• Molecular analysis of G+C-rich upstream sequences regulating transcription of the human carbonic anhydrase II gene.
  per: Shapiro, L H, et al.
  Publicat: (1987)