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Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

Document Type

Article

Author

Chen, D.-H.; Davis, M.; Bonkowski, E.; Bird, T.D.; Naydenov, A.; Stella, N.; Blankman, J.L.; Cravatt, B.F.; Mefford, H.C.; Sul, Y.; Wolff, J.; Matsushita, M.; Smith, C.; Raskind, W.H.; Barloon, A.S.; Mackie, K.

Source

In: Human Mutation. (Human Mutation, December 2013, 34(12):1672-1678)

Subject

Language

English

ISSN

10597794
10981004

Online Access

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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