Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

M (Mike) Gerards; R Kamps; J van Oevelen; I Boesten; E Jongen; B de Koning; Jasper Scholte; I de Angst; Kees Schoonderwoerd; A Sefiani; I Ratbi; W Coppieters; L Karim; IFM Coo; B van den Bosch; H Smeets

doi:10.1093/brain/awt013

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

M (Mike) Gerards
, R Kamps
, J van Oevelen
, I Boesten
, E Jongen
, B de Koning
, Jasper Scholte
, I de Angst
, Kees Schoonderwoerd
, A Sefiani
, I Ratbi
, W Coppieters
, L Karim
, IFM Coo
, B van den Bosch
, H Smeets

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

76 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	882-890
Number of pages	9
Journal	Brain
Volume	136
DOIs	https://doi.org/10.1093/brain/awt013
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01
EMC MM-04-44-02
EMC ONWAR-01-94-01

Access to Document

10.1093/brain/awt013

http://hdl.handle.net/1765/39569

Cite this

Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, J., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., Coo, IFM., van den Bosch, B., & Smeets, H. (2013). Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain, 136, 882-890. https://doi.org/10.1093/brain/awt013

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title = "Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome",

author = "Gerards, \{M (Mike)\} and R Kamps and \{van Oevelen\}, J and I Boesten and E Jongen and \{de Koning\}, B and Jasper Scholte and \{de Angst\}, I and Kees Schoonderwoerd and A Sefiani and I Ratbi and W Coppieters and L Karim and IFM Coo and \{van den Bosch\}, B and H Smeets",

year = "2013",

doi = "10.1093/brain/awt013",

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pages = "882--890",

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Gerards, M, Kamps, R, van Oevelen, J, Boesten, I, Jongen, E, de Koning, B, Scholte, J, de Angst, I, Schoonderwoerd, K, Sefiani, A, Ratbi, I, Coppieters, W, Karim, L, Coo, IFM, van den Bosch, B & Smeets, H 2013, 'Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome', Brain, vol. 136, pp. 882-890. https://doi.org/10.1093/brain/awt013

TY - JOUR

T1 - Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

AU - Gerards, M (Mike)

AU - Kamps, R

AU - van Oevelen, J

AU - Boesten, I

AU - Jongen, E

AU - de Koning, B

AU - Scholte, Jasper

AU - de Angst, I

AU - Schoonderwoerd, Kees

AU - Sefiani, A

AU - Ratbi, I

AU - Coppieters, W

AU - Karim, L

AU - Coo, IFM

AU - van den Bosch, B

AU - Smeets, H

PY - 2013

Y1 - 2013

U2 - 10.1093/brain/awt013

DO - 10.1093/brain/awt013

M3 - Article

C2 - 23423671

SN - 0006-8950

VL - 136

SP - 882

EP - 890

JO - Brain

JF - Brain

ER -