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Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

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Title: Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
Authors: Bountouvi, Evangelia1, Papadopoulou, Anna1 anpapado@med.uoa.gr, Vanier, Marie T.2, Nyktari, Georgia1, Kanellakis, Spyridon3, Michelakakis, Helen4, Dinopoulos, Argyrios1
Source: BMC Medical Genetics. 5/4/2017, Vol. 18, p1-8. 8p.
Database: Academic Search Ultimate
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  Data: Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genetics%22">BMC Medical Genetics</searchLink>. 5/4/2017, Vol. 18, p1-8. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=122907877
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        Value: 10.1186/s12881-017-0409-4
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              Text: 5/4/2017
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