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

Cite this

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. (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

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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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doi = "10.1093/brain/awt054",

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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

TY - JOUR

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.

PY - 2013

Y1 - 2013

U2 - 10.1093/brain/awt054

DO - 10.1093/brain/awt054

M3 - Article

C2 - 23482991

VL - 136

SP - 1534

EP - 1543

JO - Brain

JF - Brain

SN - 0006-8950

IS - 5

ER -