Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
about
Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
P2860
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
@zh-hk
2013年論文
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2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@en
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@nl
type
label
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@en
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@nl
prefLabel
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@en
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@nl
P2093
P2860
P356
P1433
P1476
Functional analysis and in vit ...... ns causing tyrosinemia type I.
@en
P2093
C Pérez-Cerdá
L R Desviat
R Navarrete
R Pérez-Carro
R Sánchez-Alcudia
P2860
P304
P356
10.1111/CGE.12243
P577
2013-08-21T00:00:00Z