Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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http://www.wikidata.org/entity/Q36527720

description

1998 nî lūn-bûn

@nan

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

1998年论文

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1998年论文

@zh-cn

name

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@ast

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

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type

Item

label

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@ast

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@en

prefLabel

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@ast

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@en

P1476

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.

@en

P2093

F Laval

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M J Prieto-Alamo

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P2860

Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1

Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

RNA capping enzyme and DNA ligase: a superfamily of covalent nucleotidyl transferases

Two novel mutations involved in hereditary tyrosinemia type I

P304

12614-12618

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scholarly article

P356

10.1073/PNAS.95.21.12614

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English

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P478

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P577

1998-10-01T00:00:00Z

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P5875

13514725

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P698

9770534

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22879

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