Molecular basis of galactosemia: Mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

Antzeko izenburuak

• Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
  nork: Reichardt, J K, et al.
  Argitaratua: (1991)
• Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase
  nork: McCorvie, Thomas J., et al.
  Argitaratua: (2016)
• Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
  nork: McCorvie, Thomas J, et al.
  Argitaratua: (2013)
• Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
  nork: Reichardt, J K, et al.
  Argitaratua: (1991)
• Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.
  nork: Elsevier, J P, et al.
  Argitaratua: (1996)