Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

P. Smits; H. Antonicka; P.M. van Hasselt; W. Weraarpachai; W. Haller; M.A. Schreurs; H. Venselaar; R.J. Rodenburg; J.A.M. Smeitink; L.P. van den Heuvel

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

Translated title of the contribution: Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

P. Smits
, H. Antonicka
, P.M. van Hasselt
, W. Weraarpachai
, W. Haller
, M.A. Schreurs
, H. Venselaar
, R.J. Rodenburg
, J.A.M. Smeitink
, L.P. van den Heuvel

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

Translated title of the contribution	Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Original language	Undefined/Unknown
Pages (from-to)	275-9
Number of pages	5
Journal	European Journal of Human Genetics
Volume	19
Issue number	3
Publication status	Published - 2011

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

Cite this

Smits, P., Antonicka, H., van Hasselt, P. M., Weraarpachai, W., Haller, W., Schreurs, M. A., Venselaar, H., Rodenburg, R. J., Smeitink, J. A. M., & van den Heuvel, L. P. (2011). Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. European Journal of Human Genetics, 19(3), 275-9.

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title = "Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK)",

author = "P. Smits and H. Antonicka and \{van Hasselt\}, P.M. and W. Weraarpachai and W. Haller and M.A. Schreurs and H. Venselaar and R.J. Rodenburg and J.A.M. Smeitink and \{van den Heuvel\}, L.P.",

year = "2011",

language = "Undefined/Unknown",

volume = "19",

pages = "275--9",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

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}

TY - JOUR

T1 - Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

AU - Smits, P.

AU - Antonicka, H.

AU - van Hasselt, P.M.

AU - Weraarpachai, W.

AU - Haller, W.

AU - Schreurs, M.A.

AU - Venselaar, H.

AU - Rodenburg, R.J.

AU - Smeitink, J.A.M.

AU - van den Heuvel, L.P.

PY - 2011

Y1 - 2011

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1018-4813

VL - 19

SP - 275

EP - 279

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -