Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase (Q28243602)

1

0 references

J Chou

2

0 references

W A Gahl

3

0 references

R Berger

4

0 references

T Coşkun

5

0 references

E Brodtkorb

6

0 references

E A Kvittingen

Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein

7

0 references

language of work or name

English

0 references

publication date

June 1994

0 references

published in

Human Genetics

0 references

volume

93

0 references

issue

6

0 references

page(s)

615-9

0 references

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Type I hereditary tyrosinaemia: presentation of 11 cases

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

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

12 December 2020

Automated DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis

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

Renal failure in adult patients with hereditary tyrosinaemia 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

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Generation of high efficiency, single-stranded DNA hybridization probes by PCR.

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

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

Nucleotide sequence of cDNA encoding human fumarylacetoacetase

1 reference

12 December 2020

Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction

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