A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
Natacha Dreumont, Jacques A Poudrier, Anne Bergeron, Harvey L Levy, Faouzi Baklouti, Robert M TanguayVolume:
2
Language:
english
DOI:
10.1186/1471-2156-2-9
Date:
December, 2001
File:
PDF, 766 KB
english, 2001