Literature DB >> 1524868

Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase.

M Grompe1, M al-Dhalimy.   

Abstract

Hereditary tyrosinemia type I is caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) (EC 3.7.1.2), the final step in tyrosine degradation. We report here the cloning and sequencing of a full length cDNA coding for murine FAH. This cDNA is highly homologous to the previously cloned human and rat genes.

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Year:  1992        PMID： 1524868     DOI： 10.1016/0885-4505(92)90044-y

Source DB:  PubMed          Journal:  Biochem Med Metab Biol        ISSN： 0885-4505


  4 in total

1.  Efficiency of insertion versus replacement vector targeting varies at different chromosomal loci.

Authors:  P Hasty; M Crist; M Grompe; A Bradley
Journal:  Mol Cell Biol       Date:  1994-12       Impact factor: 4.272

2.  3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes.

Authors:  S Wang; J H Nadeau; A Duncan; M F Robert; G Fontaine; K Schappert; K R Johnson; E Zietkiewicz; P Hruz; H Miziorko
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

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

Authors:  H Rootwelt; T Kristensen; R Berger; K Høie; E A Kvittingen
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

4.  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
  4 in total

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