Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.

Antzeko izenburuak

• Molecular basis of human carbonic anhydrase II deficiency.
  nork: Roth, D E, et al.
  Argitaratua: (1992)
• 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.
  nork: Venta, P J, et al.
  Argitaratua: (1991)
• PCR detection of a BstNI RSP in exon 6 of the human carbonic anydrase II locus, CA2
  nork: Venta, P.J., et al.
  Argitaratua: (1991)
• Nucleotide sequence of human liver carbonic anhydrase II cDNA.
  nork: Montgomery, J C, et al.
  Argitaratua: (1987)
• Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
  nork: Sly, W S, et al.
  Argitaratua: (1983)