Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations

W.E. Visser, J. Jansen, E.C.H. Friesema, M.H.A. Kester, E. Mancilla, J. Lundgren, M.S. van der Knaap, R.J. Lunsing, O.F. Brouwar, T.J. Visser

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)29-38
JournalHuman Mutation
Volume30
Issue number1
DOIs
Publication statusPublished - 2009

Cite this

Visser, W. E., Jansen, J., Friesema, E. C. H., Kester, M. H. A., Mancilla, E., Lundgren, J., ... Visser, T. J. (2009). Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations. Human Mutation, 30(1), 29-38. https://doi.org/10.1002/humu.20808
Visser, W.E. ; Jansen, J. ; Friesema, E.C.H. ; Kester, M.H.A. ; Mancilla, E. ; Lundgren, J. ; van der Knaap, M.S. ; Lunsing, R.J. ; Brouwar, O.F. ; Visser, T.J. / Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations. In: Human Mutation. 2009 ; Vol. 30, No. 1. pp. 29-38.
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title = "Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations",
author = "W.E. Visser and J. Jansen and E.C.H. Friesema and M.H.A. Kester and E. Mancilla and J. Lundgren and {van der Knaap}, M.S. and R.J. Lunsing and O.F. Brouwar and T.J. Visser",
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Visser, WE, Jansen, J, Friesema, ECH, Kester, MHA, Mancilla, E, Lundgren, J, van der Knaap, MS, Lunsing, RJ, Brouwar, OF & Visser, TJ 2009, 'Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations' Human Mutation, vol. 30, no. 1, pp. 29-38. https://doi.org/10.1002/humu.20808

Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations. / Visser, W.E.; Jansen, J.; Friesema, E.C.H.; Kester, M.H.A.; Mancilla, E.; Lundgren, J.; van der Knaap, M.S.; Lunsing, R.J.; Brouwar, O.F.; Visser, T.J.

In: Human Mutation, Vol. 30, No. 1, 2009, p. 29-38.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations

AU - Visser, W.E.

AU - Jansen, J.

AU - Friesema, E.C.H.

AU - Kester, M.H.A.

AU - Mancilla, E.

AU - Lundgren, J.

AU - van der Knaap, M.S.

AU - Lunsing, R.J.

AU - Brouwar, O.F.

AU - Visser, T.J.

PY - 2009

Y1 - 2009

U2 - 10.1002/humu.20808

DO - 10.1002/humu.20808

M3 - Article

VL - 30

SP - 29

EP - 38

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -

Visser WE, Jansen J, Friesema ECH, Kester MHA, Mancilla E, Lundgren J et al. Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations. Human Mutation. 2009;30(1):29-38. https://doi.org/10.1002/humu.20808