Literature DB >> 20662857

Gaucher disease: frequency of the N370S mutation in the Greek population.

E Dimitriou, M Moraitou, C Troungos, K Schulpis, H Michelakakis.   

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Year:  2010        PMID： 20662857     DOI： 10.1111/j.1399-0004.2010.01381.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Authors:  Pilar Giraldo; Pilar Alfonso; Pilar Irún; Laura Gort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg; Clara M Sá Miranda; Miguel Pocovi
Journal:  Orphanet J Rare Dis       Date:  2012-03-19       Impact factor: 4.123

2.  Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Authors:  Evangelia Dimitriou; Marina Moraitou; Mónica Cozar; Jenny Serra-Vinardell; Lluïsa Vilageliu; Daniel Grinberg; Irene Mavridou; Helen Michelakakis
Journal:  Mol Genet Metab Rep       Date:  2020-06-07
  2 in total

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