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
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