(Q72165042)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076937%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

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24 October 2019

2

1 reference

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24 October 2019

author name string

H Rootwelt

1

1 reference

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24 October 2019

R Berger

3

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24 October 2019

K Høie

4

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24 October 2019

E A Kvittingen

5

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24 October 2019

publication date

1 September 1994

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24 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076937%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

94

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24 October 2019

page(s)

235-239

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24 October 2019

issue

3

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https://scigraph.springernature.com/pub.10.1007/bf00208276

24 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Neurologic crises in hereditary tyrosinemia

1 reference

12 December 2020

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1 reference

12 December 2020

Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA.

1 reference

12 December 2020

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

12 December 2020

Automated DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

1 reference

12 December 2020

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

1 reference

12 December 2020

Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase.

1 reference

12 December 2020

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

1 reference

12 December 2020

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

1 reference

12 December 2020

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

1 reference

12 December 2020

Human pre-mRNA splicing signals

1 reference

12 December 2020

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase

1 reference

12 December 2020

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

1 reference

12 December 2020

T7 DNA polymerase in automated dideoxy sequencing

1 reference

12 December 2020

Number and evolutionary conservation of alpha- and beta-tubulin and cytoplasmic beta- and gamma-actin genes using specific cloned cDNA probes

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076937%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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