Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Gregory A Farnum; Anssi Nurminen; Laurie S Kaguni

doi:10.1016/j.bbabio.2014.01.021

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Gregory A Farnum
, Anssi Nurminen
, Laurie S Kaguni

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

43 Citations (Scopus)

Original language	English
Pages (from-to)	1113-1121
Journal	Biochimica et Biophysica Acta: Bioenergetics
Volume	1837
Issue number	7
DOIs	https://doi.org/10.1016/j.bbabio.2014.01.021
Publication status	Published - 2014
Publication type	A1 Journal article-refereed

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Publication forum level 2

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10.1016/j.bbabio.2014.01.021

Cite this

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title = "Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.",

author = "Farnum, \{Gregory A\} and Anssi Nurminen and Kaguni, \{Laurie S\}",

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Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. / Farnum, Gregory A; Nurminen, Anssi; Kaguni, Laurie S.
In: Biochimica et Biophysica Acta: Bioenergetics, Vol. 1837, No. 7, 2014, p. 1113-1121.

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

TY - JOUR

T1 - Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

AU - Farnum, Gregory A

AU - Nurminen, Anssi

AU - Kaguni, Laurie S

PY - 2014

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DO - 10.1016/j.bbabio.2014.01.021

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SP - 1113

EP - 1121

JO - Biochimica et Biophysica Acta: Bioenergetics

JF - Biochimica et Biophysica Acta: Bioenergetics

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