Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.

Poudrier, J

Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean. [electronic resource] - Prenatal diagnosis Jan 1996 - 59-64 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0197-3851

10.1002/(SICI)1097-0223(199601)16:1<59::AID-PD810>3.0.CO;2-D doi


Amino Acid Metabolism, Inborn Errors--genetics
Female
Gene Frequency
Heterozygote
Humans
Hydrolases--deficiency
Male
Mutation
Quebec
RNA Splicing
Tyrosine--blood