Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

AH Hakonen; S Heiskanen; V Juvonen; I Lappalainen; PT Luoma; M Rantamaki; GV Goethem; A Lofgren; P Hackman; A Paetau; S Kaakkola; K Majamaa; T Varilo; B Udd; H Kaariainen; LA Bindoff; A. Suomalainen

doi:10.1086/444548

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

AH Hakonen, S Heiskanen, V Juvonen, I Lappalainen, PT Luoma, M Rantamaki, GV Goethem, A Lofgren, P Hackman, A Paetau, S Kaakkola, K Majamaa, T Varilo, B Udd, H Kaariainen, LA Bindoff, A. Suomalainen

Department of Neurosciences and Rehabilitation

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

Original language	English
Pages (from-to)	430-441
Journal	Am J Hum Genet.
Volume	77
Issue number	3
DOIs	https://doi.org/10.1086/444548
Publication status	Published - 2005
Publication type	A1 Journal article-refereed

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10.1086/444548

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Hakonen, AH., Heiskanen, S., Juvonen, V., Lappalainen, I., Luoma, PT., Rantamaki, M., Goethem, GV., Lofgren, A., Hackman, P., Paetau, A., Kaakkola, S., Majamaa, K., Varilo, T., Udd, B., Kaariainen, H., Bindoff, LA., & Suomalainen, A. (2005). Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet., 77(3), 430-441. https://doi.org/10.1086/444548

Hakonen, AH ; Heiskanen, S ; Juvonen, V ; Lappalainen, I ; Luoma, PT ; Rantamaki, M ; Goethem, GV ; Lofgren, A ; Hackman, P ; Paetau, A ; Kaakkola, S ; Majamaa, K ; Varilo, T ; Udd, B ; Kaariainen, H ; Bindoff, LA ; Suomalainen, A. / Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. In: Am J Hum Genet. 2005 ; Vol. 77, No. 3. pp. 430-441.

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title = "Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin",

author = "AH Hakonen and S Heiskanen and V Juvonen and I Lappalainen and PT Luoma and M Rantamaki and GV Goethem and A Lofgren and P Hackman and A Paetau and S Kaakkola and K Majamaa and T Varilo and B Udd and H Kaariainen and LA Bindoff and A. Suomalainen",

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language = "English",

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pages = "430--441",

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Hakonen, AH, Heiskanen, S, Juvonen, V, Lappalainen, I, Luoma, PT, Rantamaki, M, Goethem, GV, Lofgren, A, Hackman, P, Paetau, A, Kaakkola, S, Majamaa, K, Varilo, T, Udd, B, Kaariainen, H, Bindoff, LA & Suomalainen, A 2005, 'Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin', Am J Hum Genet., vol. 77, no. 3, pp. 430-441. https://doi.org/10.1086/444548

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. / Hakonen, AH; Heiskanen, S; Juvonen, V; Lappalainen, I; Luoma, PT; Rantamaki, M; Goethem, GV; Lofgren, A; Hackman, P; Paetau, A; Kaakkola, S; Majamaa, K; Varilo, T; Udd, B; Kaariainen, H; Bindoff, LA; Suomalainen, A.

In: Am J Hum Genet., Vol. 77, No. 3, 2005, p. 430-441.

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

TY - JOUR

T1 - Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

AU - Hakonen, AH

AU - Heiskanen, S

AU - Juvonen, V

AU - Lappalainen, I

AU - Luoma, PT

AU - Rantamaki, M

AU - Goethem, GV

AU - Lofgren, A

AU - Hackman, P

AU - Paetau, A

AU - Kaakkola, S

AU - Majamaa, K

AU - Varilo, T

AU - Udd, B

AU - Kaariainen, H

AU - Bindoff, LA

AU - Suomalainen, A.

PY - 2005

Y1 - 2005

U2 - 10.1086/444548

DO - 10.1086/444548

M3 - Article

VL - 77

SP - 430

EP - 441

IS - 3

ER -