Article
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
Human genetics - 1 Jan 1996
Ploos van Amstel J K, Bergman A J, van Beurden E A, Roijers J F, Peelen T, van den Berg I E, Poll-The B T, Kvittingen E A, Berger R
Abstract excerpt
The complete fumarylacetoacetate hydrolase (FAH) genotype of probands of thirteen unrelated families with hereditary tyrosinemia type 1 (HT 1) was established. The screening was performed by analysis of exons 2-14 of the FAH gene by using the polymerase chain reaction (PCR) and of the mRNA by reverse transcription/PCR. Nine different mutations were identified, of which six are novel. Three mutations involve...
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