A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
about
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decayIn vivo reversion to normal of inherited mutations in humans.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Hypermethioninemias of genetic and non-genetic origin: A review.Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
P2860
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
description
2001 nî lūn-bûn
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2001 թուականին հրատարակուած գիտական յօդուած
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2001 թվականին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年论文
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name
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@ast
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@en
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@nl
type
label
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@ast
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@en
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@nl
prefLabel
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@ast
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@en
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@nl
P2093
P2860
P356
P1433
P1476
A missense mutation (Q279R) in ...... a, acts as a splicing mutation
@en
P2093
A Bergeron
F Baklouti
J A Poudrier
R M Tanguay
P2860
P2888
P356
10.1186/1471-2156-2-9
P407
P50
P577
2001-06-29T00:00:00Z
P5875
P6179
1003760900