Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy-Reference-Cited by-同舟云学术

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Published:2012-07-23 Issue:20 Volume:21 Page:4521-4529
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

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

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/20/4521/17257079/dds294.pdf

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4. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes;Shamseldin;J. Med. Genet.,2012

5. Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation;Banerjee;J. Mol. Biol.,2011

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