Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
| Autor: | Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Zeinali, Sirous, Mansouri, Parvin, Sotoudeh, Soheila, Barzegar, Mohammadreza, Mohammadi-asl, Javad, Karamzadeh, Razieh, Abiri, Maryam, McCormick, Kevin, Fortina, Paolo, Uitto, Jouni |
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| Zdroj: | In Journal of Investigative Dermatology March 2017 137(3):678-685 |
| Databáze: | ScienceDirect |
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