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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Document Type

Article

Author

Kevelam, S.H.; Bugiani, M.; Postma, N.L.; Wolf, N.I.; Abbink, T.E.M.; Van Der Knaap, M.S.; Bakker, I.M.C.; Heutink, P.; Salomons, G.S.; Kanhai, W.A.; Feigenbaum, A.; Blaser, S.; Prasad, C.; Häberle, J.; Barić, I.; Waisfisz, Q.

Source

In: Brain. (Brain, May 2013, 136(5):1534-1543)

Subject

Language

English

ISSN

14602156
00068950

Online Access

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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