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

S.H.G. Kevelam; M. Bugiani; G.S. Salomons; A. Feigenbaum; S. Blaser; C. Prasad; J. Haberle; I. Baric; I.M.C. Bakker; N.L. Postma; W.A. Kanhai; N.I. Wolf; G.E.M. Abbink; Q. Waisfisz; P. Heutink; M.S. van der Knaap

doi:10.1093/brain/awt054

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

S.H.G. Kevelam, M. Bugiani, G.S. Salomons, A. Feigenbaum, S. Blaser, C. Prasad, J. Haberle, I. Baric, I.M.C. Bakker, N.L. Postma, W.A. Kanhai, N.I. Wolf, G.E.M. Abbink, Q. Waisfisz, P. Heutink, M.S. van der Knaap

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	1534-1543
Journal	Brain
Volume	136
Issue number	5
DOIs	https://doi.org/10.1093/brain/awt054
Publication status	Published - 2013

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10.1093/brain/awt054

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Kevelam, S. H. G., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., ... van der Knaap, M. S. (2013). Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain, 136(5), 1534-1543. https://doi.org/10.1093/brain/awt054

Kevelam, S.H.G. ; Bugiani, M. ; Salomons, G.S. ; Feigenbaum, A. ; Blaser, S. ; Prasad, C. ; Haberle, J. ; Baric, I. ; Bakker, I.M.C. ; Postma, N.L. ; Kanhai, W.A. ; Wolf, N.I. ; Abbink, G.E.M. ; Waisfisz, Q. ; Heutink, P. ; van der Knaap, M.S. / Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. In: Brain. 2013 ; Vol. 136, No. 5. pp. 1534-1543.

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

author = "S.H.G. Kevelam and M. Bugiani and G.S. Salomons and A. Feigenbaum and S. Blaser and C. Prasad and J. Haberle and I. Baric and I.M.C. Bakker and N.L. Postma and W.A. Kanhai and N.I. Wolf and G.E.M. Abbink and Q. Waisfisz and P. Heutink and {van der Knaap}, M.S.",

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Kevelam, SHG, Bugiani, M , Salomons, GS, Feigenbaum, A, Blaser, S, Prasad, C, Haberle, J, Baric, I, Bakker, IMC, Postma, NL, Kanhai, WA, Wolf, NI , Abbink, GEM , Waisfisz, Q, Heutink, P & van der Knaap, MS 2013, 'Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy', Brain, vol. 136, no. 5, pp. 1534-1543. https://doi.org/10.1093/brain/awt054

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. / Kevelam, S.H.G.; Bugiani, M.; Salomons, G.S.; Feigenbaum, A.; Blaser, S.; Prasad, C.; Haberle, J.; Baric, I.; Bakker, I.M.C.; Postma, N.L.; Kanhai, W.A.; Wolf, N.I.; Abbink, G.E.M.; Waisfisz, Q.; Heutink, P.; van der Knaap, M.S.

In: Brain, Vol. 136, No. 5, 2013, p. 1534-1543.

Research output: Contribution to journal › Article › Academic › peer-review

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T1 - Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

AU - Kevelam, S.H.G.

AU - Bugiani, M.

AU - Salomons, G.S.

AU - Feigenbaum, A.

AU - Blaser, S.

AU - Prasad, C.

AU - Haberle, J.

AU - Baric, I.

AU - Bakker, I.M.C.

AU - Postma, N.L.

AU - Kanhai, W.A.

AU - Wolf, N.I.

AU - Abbink, G.E.M.

AU - Waisfisz, Q.

AU - Heutink, P.

AU - van der Knaap, M.S.

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DO - 10.1093/brain/awt054

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