Literature DB >> 1674378

Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.

S I Demers1, R M Tanguay.   

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Year:  1991        PMID： 1674378      PMCID： PMC328157     

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


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  2 in total

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

Authors:  R M Tanguay; J P Valet; A Lescault; J L Duband; C Laberge; F Lettre; M Plante
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

2.  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
  2 in total
  4 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.  Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Authors:  D Phaneuf; M Lambert; R Laframboise; G Mitchell; F Lettre; R M Tanguay
Journal:  J Clin Invest       Date:  1992-10       Impact factor: 14.808

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

Authors:  S I Demers; D Phaneuf; R M Tanguay
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025
  4 in total

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