Literature DB >> 1780610

[Analysis of the PrP gene in a Tunisian family with Creutzfeldt-Jakob disease].

J L Laplanche1, J Chatelain, S Thomas, P Brown, F Cathala.   

Abstract

Results of PrP gene analysis in 5 of 9 members from a Jewish Tunisian family with Creutzfeldt-Jakob disease (CJD) showed a mutation at codon 200 involving substitution of lysine (Lys200) for glutamic acid (Glu200). This observation suggests that Lys200 allele probably tracks with CJD in this family and supports the possible genetic basis of the disease in the Mediterranean cluster. A second PrP variant not associated with Lys200 allele involving a short deletion in the coding sequence has also been found in only one subject.

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Year:  1991        PMID: 1780610

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  3 in total

Review 1.  Prions, beta-sheets and transmissible dementias: is there still something missing?

Authors:  P P Liberski
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

2.  Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.

Authors:  M Salvatore; M Genuardi; R Petraroli; C Masullo; M D'Alessandro; M Pocchiari
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

Review 3.  Prions and related neurological diseases.

Authors:  M Pocchiari
Journal:  Mol Aspects Med       Date:  1994
  3 in total

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