Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease
about
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Hereditary Tyrosinemia Type 1 in Turkey.Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
P2860
Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@en
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
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type
label
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@en
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@nl
prefLabel
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@en
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@nl
P2093
P2860
P356
P1476
Mutation spectrum of fumarylac ...... of tyrosinemia type I disease
@en
P2093
D Aliefendioglu
P2860
P356
10.1007/8904_2011_10
P577
2011-06-22T00:00:00Z