Literature DB >> 8889591

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

O Amaral1, E Pinto, M Fortuna, L Lacerda, M C Sá Miranda.   

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Year:  1996        PMID： 8889591     DOI： 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z

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


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  5 in total

1.  Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study.

Authors:  Rigoberto Gadelha Chaves; Janice Carneiro Coelho; Kristiane Michelin-Tirelli; Tibelle Freitas Maurício; Edineide de Freitas Maia Chaves; Paulo César de Almeida; Carlos Rômulo Filgueira Maurício; Geraldo Barroso Cavalcanti
Journal:  JIMD Rep       Date:  2011-06-22

2.  Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Authors:  Marina Siebert; Hugo Bock; Kristiane Michelin-Tirelli; Janice C Coelho; Roberto Giugliani; Maria Luiza Saraiva-Pereira
Journal:  JIMD Rep       Date:  2012-10-09

3.  Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Authors:  A Chabás; L Gort; M Montfort; F Castelló; M C Domínguez; D Grinberg; L Vilageliu
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

4.  Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.

Authors:  R Colombo
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

5.  A familial concurrence of schizophrenia and Gaucher's disease.

Authors:  Odysseas D Mouzas; Konstantinos E Siomos; Nikiforos V Angelopoulos
Journal:  Ann Gen Psychiatry       Date:  2007-12-17       Impact factor: 3.455
  5 in total

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