Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M. Elo; Srujana S. Yadavalli; Liliya Euro; Pirjo Isohanni; Alexandra Götz; Christopher J. Carroll; Leena Valanne; Fowzan S. Alkuraya; Johanna Uusimaa; Anders Paetau; Eric M. Caruso; Helena Pihko; Michael Ibba; Henna Tyynismaa; Anu Suomalainen

doi:10.1093/hmg/dds294

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M. Elo, Srujana S. Yadavalli, Liliya Euro, Pirjo Isohanni, Alexandra Götz, Christopher J. Carroll, Leena Valanne, Fowzan S. Alkuraya, Johanna Uusimaa, Anders Paetau, Eric M. Caruso, Helena Pihko, Michael Ibba, Henna Tyynismaa, Anu Suomalainen

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

Translated title of the contribution	Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
Original language	English
Journal	Human Molecular Genetics
Volume	21
Issue number	20
Pages (from-to)	4521-4529
Number of pages	9
ISSN	0964-6906
DOIs	https://doi.org/10.1093/hmg/dds294
Publication status	Published - 15 Oct 2012
MoE publication type	A1 Journal article-refereed

Fields of Science

3111 Biomedicine

Access to Document

10.1093/hmg/dds294

Cite this

Elo, J. M., Yadavalli, S. S., Euro, L., Isohanni, P., Götz, A., Carroll, C. J., Valanne, L., Alkuraya, F. S., Uusimaa, J., Paetau, A., Caruso, E. M., Pihko, H., Ibba, M., Tyynismaa, H., & Suomalainen, A. (2012). Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Human Molecular Genetics, 21(20), 4521-4529. https://doi.org/10.1093/hmg/dds294

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title = "Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy",

keywords = "3111 Biomedicine",

author = "Elo, {Jenni M.} and Yadavalli, {Srujana S.} and Liliya Euro and Pirjo Isohanni and Alexandra G{\"o}tz and Carroll, {Christopher J.} and Leena Valanne and Alkuraya, {Fowzan S.} and Johanna Uusimaa and Anders Paetau and Caruso, {Eric M.} and Helena Pihko and Michael Ibba and Henna Tyynismaa and Anu Suomalainen",

year = "2012",

month = oct,

day = "15",

doi = "10.1093/hmg/dds294",

language = "English",

volume = "21",

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journal = "Human Molecular Genetics",

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Elo, JM, Yadavalli, SS, Euro, L , Isohanni, P, Götz, A, Carroll, CJ, Valanne, L, Alkuraya, FS, Uusimaa, J, Paetau, A, Caruso, EM, Pihko, H, Ibba, M, Tyynismaa, H & Suomalainen, A 2012, 'Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy', Human Molecular Genetics, vol. 21, no. 20, pp. 4521-4529. https://doi.org/10.1093/hmg/dds294

TY - JOUR

T1 - Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

AU - Elo, Jenni M.

AU - Yadavalli, Srujana S.

AU - Euro, Liliya

AU - Isohanni, Pirjo

AU - Götz, Alexandra

AU - Carroll, Christopher J.

AU - Valanne, Leena

AU - Alkuraya, Fowzan S.

AU - Uusimaa, Johanna

AU - Paetau, Anders

AU - Caruso, Eric M.

AU - Pihko, Helena

AU - Ibba, Michael

AU - Tyynismaa, Henna

AU - Suomalainen, Anu

PY - 2012/10/15

Y1 - 2012/10/15

KW - 3111 Biomedicine

U2 - 10.1093/hmg/dds294

DO - 10.1093/hmg/dds294

M3 - Article

SN - 0964-6906

VL - 21

SP - 4521

EP - 4529

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 20

ER -