(Q28272994)

English

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

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scholarly article

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

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author name string

J K Ploos van Amstel

1

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A J Bergman

2

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E A van Beurden

3

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J F Roijers

4

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T Peelen

5

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I E van den Berg

6

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B T Poll-The

7

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E A Kvittingen

8

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R Berger

9

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language of work or name

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publication date

January 1996

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97

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51-9

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1

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Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary tyrosinemia in a French Canadian isolate

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of type I hereditary tyrosinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequence of cDNA encoding human fumarylacetoacetase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8557261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00218833

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Dimensions Publication ID

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Springer Nature article ID

10.1007/bf00218833

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