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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Document Type

Short Communication

Author

Caglayan, Ahmet Okay; Comu, Sinan; Baranoski, Jacob F.; Parman, Yesim; Kaymakçalan, Hande; Akgumus, Gozde Tugce; Caglar, Caner; Dolen, Duygu; Erson-Omay, Emine Zeynep; Harmanci, Akdes Serin; Mishra-Gorur, Ketu; Freeze, Hudson H.; Yasuno, Katsuhito; Bilguvar, Kaya; Gunel, Murat

Source

In European Journal of Medical Genetics January 2015 58(1):39-43

Subject

Language

ISSN

1769-7212

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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