Kpnl and Rsal RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene

Lignende værker

• MspI RFLP in the human fumarylacetoacetate hydrolase (FAH) gene
  af: Demers, S.I., et al.
  Udgivet: (1991)
• Kpnl and Rsal RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene
  af: Demers, Sylvie I., et al.
  Udgivet: (1991)
• Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus.
  af: Klebig, M L, et al.
  Udgivet: (1992)
• Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
  af: Jaka Sikonja, et al.
  Udgivet: (2022-03-01)
• A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
  af: Dreumont, Natacha, et al.
  Udgivet: (2001)