A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

Benzer Materyaller

• Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
  Yazar:: Sly, W S, ve diğerleri
  Baskı/Yayın Bilgisi: (1983)
• Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
  Yazar:: Piret, Sian E., ve diğerleri
  Baskı/Yayın Bilgisi: (2016)
• Renal tubular acidosis.
  Yazar:: Farid, N R, ve diğerleri
  Baskı/Yayın Bilgisi: (1971)
• Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
  Yazar:: Stover, E, ve diğerleri
  Baskı/Yayın Bilgisi: (2002)
• Renal tubular acidosis, osteopetrosis, and cerebral calcification: A rare syndrome caused by carbonic anhydrase II deficiency
  Yazar:: B A Laway, ve diğerleri
  Baskı/Yayın Bilgisi: (2017-01-01)