Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

Maryam RafatiReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran;Gene Clinic, Tehran, Iran

Faezeh MohamadhashemReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran

Azadeh HoseiniReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran

Somayeh Darzi RamandiComprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran

Saeed Reza GhaffariReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran;Comprehensive Genetic Center, Hope Generation Foundation, Tehran, Iran;Gene Clinic, Tehran, IranCorrespondence[email protected]

References

Ellaway CJ, Holme E, Standing S, et al. Outcome of tyrosinaemia type III. J Inherit Metab Dis. 2001;24:824–832.
PubMed Web of Science ®Google Scholar
Dursun A, Ozgül RK, Sivri S, et al. Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. JIMD Rep. 2011;1:17–21.
PubMedGoogle Scholar
Bergman AJ, van den Berg IE, Brink W, Poll-The BT, Ploos van Amstel JK, Berger R. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. Hum Mutat. 1998;12:19–26.
PubMed Web of Science ®Google Scholar
Arranz JA, Pinol F, Kozak L, et al. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat. 2002;20:180–188.
PubMed Web of Science ®Google Scholar

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Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

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