Fumarylacetoacetase mutations in tyrosin
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Helge Rootwelt; Kari HΓΈie; Ruud Berger; Eli Anne Kvittingen
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Article
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1996
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John Wiley and Sons
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English
β 467 KB
Sixty-two hereditary tyrosinaemia type I (HT1) patients of various ethnic origins were classified clinically into acute, chronic, or intermediate phenotypes and screened for the 14 published causal mutations in the fumarylacetoacetase (FAH) gene. Restriction analysis of PCR amplified genomic DNA ide