Two novel mutations involved in hereditary tyrosinemia type I.
St-Louis
M
M
Laboratoire de Génétique Cellulaire et Développementale, Université Laval, Ste-Foy, Québec, Canada.
Poudrier
J
J
Phaneuf
D
D
Leclerc
B
B
Laframboise
R
R
Tanguay
R M
RM
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D002170:Canada; D004247:DNA / Q000032:analysis; D005091:Exons; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000172:deficiency / Q000235:genetics*; D007231:Infant, Newborn; D008099:Liver / Q000737:chemistry; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009664:Norway; D010455:Peptides / Q000032:analysis; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014443:Tyrosine / Q000097:blood* / Q000235:genetics* / Q000378:metabolism
D010455:Peptides; D014443:Tyrosine; D004247:DNA; D006867:Hydrolases; C020156:fumarylacetoacetase