Literature DB >> 2336361

Nucleotide sequence of cDNA encoding human fumarylacetoacetase.

E Agsteribbe1, H van Faassen, M V Hartog, T Reversma, J W Taanman, H Pannekoek, R F Evers, G M Welling, R Berger.   

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Year:  1990        PMID： 2336361      PMCID： PMC330610          DOI： 10.1093/nar/18.7.1887

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  1 in total

1.  Assay of fumarylacetoacetate fumarylhydrolase in human liver-deficient activity in a case of hereditary tyrosinemia.

Authors:  E A Kvittingen; E Jellum; O Stokke
Journal:  Clin Chim Acta       Date:  1981-09       Impact factor: 3.786
  1 in total
  12 in total

1.  Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report.

Authors:  M Grompe; K Overturf; M al-Dhalimy; M Finegold
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

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

Authors:  H Rootwelt; E A Kvittingen; K Høie; E Agsteribbe; M Hartog; H van Faassen; R Berger
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  Mixed-linker polymerase chain reaction: a new method for rapid fingerprinting of isolates of the Mycobacterium tuberculosis complex.

Authors:  W H Haas; W R Butler; C L Woodley; J T Crawford
Journal:  J Clin Microbiol       Date:  1993-05       Impact factor: 5.948

4.  Hereditary tyrosinaemia type I: a long-term study of the relationship between the urinary excretions of succinylacetone and delta-aminolevulinic acid.

Authors:  H Schierbeek; G J Beukeveld; H van Faassen; F J van Spronsen; K Bijsterveld; E E Venekamp-Hoolsema; B G Wolthers; G P Smit
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

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

Authors:  J K Ploos van Amstel; A J Bergman; E A van Beurden; J F Roijers; T Peelen; I E van den Berg; B T Poll-The; E A Kvittingen; R Berger
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

Review 6.  Tyrosinaemia type I--an update.

Authors:  E A Kvittingen
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus.

Authors:  M L Klebig; L B Russell; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1992-02-15       Impact factor: 11.205

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

Authors:  H Rootwelt; J Chou; W A Gahl; R Berger; T Coşkun; E Brodtkorb; E A Kvittingen
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

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

Authors:  D Phaneuf; Y Labelle; D Bérubé; K Arden; W Cavenee; R Gagné; R M Tanguay
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

10.  Low-Frequency Vibration Promotes Tumor Necrosis Factor-α Production to Increase Cartilage Degeneration in Knee Osteoarthritis.

Authors:  Peng-Ming Yu; Yang Lin; Chi Zhang; Hai-Ming Wang; Quan Wei; Si-Yi Zhu; Qing-Chuan Wei; Zhi-Gang Wang; Hong-Xia Pan; Ri-Dong Huang; Cheng-Qi He
Journal:  Cartilage       Date:  2020-06-12       Impact factor: 3.117
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