Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases.
| Autor: | Karim, Hajira1 Hajira.karim@std.medipol.edu.tr, Oria, Lima1, Elmas, Muhsin1 |
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| Zdroj: | Journal of Biochemical & Clinical Genetics. 2024, Vol. 7 Issue 1, p54-58. 5p. |
| Databáze: | Academic Search Ultimate |
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