Mutation screening for tyrosinaemia type I
β Scribed by S. K. Heath; R. G. F. Gray; P. McKiernan; K. M. Au; E. Walker; A. Green
- Book ID
- 110406512
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 46 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
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
Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a healthy child in the same family.