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Hyperinsulinism in tyrosinaemia type I

✍ Scribed by U. Baumann; M. A. Preece; A. Green; D. A. Kelly; P. J. McKiernan


Publisher
Springer
Year
2005
Tongue
English
Weight
65 KB
Volume
28
Category
Article
ISSN
0141-8955

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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