Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

Benzer Materyaller

• Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
  Yazar:: Qureshi, A A, ve diğerleri
  Baskı/Yayın Bilgisi: (1994)
• Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
  Yazar:: Jansen, R, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)
• Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
  Yazar:: Wilkemeyer, M F, ve diğerleri
  Baskı/Yayın Bilgisi: (1991)
• Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
  Yazar:: Crane, A M, ve diğerleri
  Baskı/Yayın Bilgisi: (1992)
• Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
  Yazar:: Ledley, F D, ve diğerleri
  Baskı/Yayın Bilgisi: (1990)