Literature DB >> 12555948

Mutation screening for tyrosinaemia type I.

S K Heath1, R G F Gray, P McKiernan, K M Au, E Walker, A Green.   

Abstract

This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.

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Year:  2002        PMID： 12555948     DOI： 10.1023/a:1021275923668

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  1 in total

1.  Crystal structure and mechanism of a carbon-carbon bond hydrolase.

Authors:  D E Timm; H A Mueller; P Bhanumoorthy; J M Harp; G J Bunick
Journal:  Structure       Date:  1999-09-15       Impact factor: 5.006
  1 in total
  8 in total

1.  Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Authors:  A Dursun; R K Ozgül; S Sivri; A Tokatlı; A Güzel; L Mesci; M Kılıç; D Aliefendioglu; F Ozçay; M Gündüz; T Coşkun
Journal:  JIMD Rep       Date:  2011-06-22

2.  Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.

Authors:  H Georgouli; K H Schulpis; H Michelakaki; M Kaltsa; T Sdogou; L Kossiva
Journal:  BMJ Case Rep       Date:  2010-12-29

3.  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

4.  Cardiomyopathy in tyrosinaemia type I is common but usually benign.

Authors:  N Arora; O Stumper; J Wright; D A Kelly; P J McKiernan
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

5.  Nitisinone in the treatment of hereditary tyrosinaemia type 1.

Authors:  Patrick J McKiernan
Journal:  Drugs       Date:  2006       Impact factor: 9.546

6.  Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

Authors:  Sunita Bijarnia; Ratna D Puri; Jean Ruel; George F Gray; Linda Jenkinson; Ishwar C Verma
Journal:  Indian J Pediatr       Date:  2006-02       Impact factor: 1.967

7.  A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.

Authors:  Natacha Dreumont; Antonella Maresca; Jean-François Boisclair-Lachance; Anne Bergeron; Robert M Tanguay
Journal:  BMC Mol Biol       Date:  2005-01-07       Impact factor: 2.946

8.  Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

Authors:  Jayesh J Sheth; Chitra M Ankleshwaria; Rajeshwari Pawar; Frenny J Sheth
Journal:  Case Rep Genet       Date:  2012-10-30
  8 in total

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