FREQUENCY OF THE IVS12+5GโA SPLICE MUTAT
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JACQUES POUDRIER; MARYSE ST-LOUIS; FRANCINE LETTRE; KARINE GIBSON; CLAUDE PRรVOS
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Article
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1996
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John Wiley and Sons
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English
โ 519 KB
Hereditary tyrosinaemia type I (HTI), an autosomal recessive inborn error of metabolism, is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The highest incidence of HTI is observed in the Saguenay-Lac-St-Jean region (SLSJ) (Quebec, Canada), where 1 out of 22 individuals is though