Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

RGE van Eijsden; M Gerards; LMT Eijssen; ATM Hendrickx; RJE Jongbloed; JHJ Wokke; Rogier Hintzen; ME Rubio-Gozalbo; IFM Coo; E Briem; V Tiranti; HJM Smeets

doi:10.1097/01.gim.0000237782.94878.05

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

RGE van Eijsden, M Gerards, LMT Eijssen, ATM Hendrickx, RJE Jongbloed, JHJ Wokke, Rogier Hintzen, ME Rubio-Gozalbo, IFM Coo, E Briem, V Tiranti, HJM Smeets

Neurology

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

33 Citations (Scopus)

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Original language	Undefined/Unknown
Pages (from-to)	620-627
Number of pages	8
Journal	Genetics in Medicine
Volume	8
Issue number	10
DOIs	https://doi.org/10.1097/01.gim.0000237782.94878.05
Publication status	Published - 2006

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EMC MM-04-44-02

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10.1097/01.gim.0000237782.94878.05

gim2006103a.pdfFinal published version, 535 KB

http://hdl.handle.net/1765/73164

Cite this

van Eijsden, RGE., Gerards, M., Eijssen, LMT., Hendrickx, ATM., Jongbloed, RJE., Wokke, JHJ., Hintzen, R., Rubio-Gozalbo, ME., Coo, IFM., Briem, E., Tiranti, V., & Smeets, HJM. (2006). Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients. Genetics in Medicine, 8(10), 620-627. https://doi.org/10.1097/01.gim.0000237782.94878.05

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van Eijsden, RGE, Gerards, M, Eijssen, LMT, Hendrickx, ATM, Jongbloed, RJE, Wokke, JHJ, Hintzen, R, Rubio-Gozalbo, ME, Coo, IFM, Briem, E, Tiranti, V & Smeets, HJM 2006, 'Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients', Genetics in Medicine, vol. 8, no. 10, pp. 620-627. https://doi.org/10.1097/01.gim.0000237782.94878.05

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T1 - Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

AU - van Eijsden, RGE

AU - Gerards, M

AU - Eijssen, LMT

AU - Hendrickx, ATM

AU - Jongbloed, RJE

AU - Wokke, JHJ

AU - Hintzen, Rogier

AU - Rubio-Gozalbo, ME

AU - Coo, IFM

AU - Briem, E

AU - Tiranti, V

AU - Smeets, HJM

PY - 2006

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DO - 10.1097/01.gim.0000237782.94878.05

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SN - 1098-3600

VL - 8

SP - 620

EP - 627

JO - Genetics in Medicine

JF - Genetics in Medicine

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ER -