Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship
Amstel, J.K.Ploos, Bergman, A.J.I.W., Beurden, E.A.C.M., Roijers, J.F.M., Peelen, T., Berg, I.E.T., Poll-The, B.T., Kvittingen, E.A., Berger, R.Volume:
97
Language:
english
Journal:
Human Genetics
DOI:
10.1007/bf00218833
Date:
January, 1996
File:
PDF, 1.40 MB
english, 1996