Literature DB >> 8723690

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

C Timmers1, M Grompe.   

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Year:  1996        PMID： 8723690     DOI： 10.1002/(SICI)1098-1004(1996)7:4<367::AID-HUMU14>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Authors:  J L Aponte; G A Sega; L J Hauser; M S Dhar; C M Withrow; D A Carpenter; E M Rinchik; C T Culiat; D K Johnson
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-16       Impact factor: 11.205

2.  Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Authors:  Francesca Angileri; Anne Bergeron; Geneviève Morrow; Francine Lettre; George Gray; Tim Hutchin; Sarah Ball; Robert M Tanguay
Journal:  JIMD Rep       Date:  2015-02-15

3.  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
  3 in total

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