Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833.
Hum Genet. 1996.
PMID: 8557261