Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Gelijkaardige items

• Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
  door: Demers, S. I., et al.
  Gepubliceerd in: (1994)
• Hereditary tyrosinemia in a French Canadian isolate.
  door: Laberge, C
  Gepubliceerd in: (1969)
• Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
  door: Angileri, Francesca, et al.
  Gepubliceerd in: (2015)
• Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
  door: John, S W, et al.
  Gepubliceerd in: (1990)
• Novel PKU mutation on haplotype 2 in French-Canadians.
  door: John, S W, et al.
  Gepubliceerd in: (1989)