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. |
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| 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 |
| ISSN: | 14712350 |
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| DOI: | 10.1186/s12881-017-0409-4 |
