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Publication
PropertyValue
Working Groups AG Rehling
SubprojectP13
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 30452684
DOIDOI 10.1093/hmg/ddy305
Publication Year2018
TitleMutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
JournalHuman Molecular Genetics
ISSN0964-6906
eISSN1460-2083
URL http://dx.doi.org/10.1093/hmg/ddy305
Journal AbbreviationHum Mol Genet
AuthorsPacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P
First AuthorPacheu-Grau D
Last AuthorRehling P

 External Resources

 academic...05.pdf  Article fulltext

 gro-2/59733  GRO.publications identifier

 NM_013337  NCBI Nucleotoide

 9606  NCBI Taxonomy (Homo sapiens)

 0000-0003-2645-3983  ORCID identifier (David Pacheu-Grau)

 0000-0002-4402-945X  ORCID identifier (Sylvie Callegari)

 0000-0001-5661-5272  ORCID identifier (Peter Rehling)

 03e76ya46  ROR identifier (03e76ya46, Max Planck Institute for Biophysical Chemistry)

 01kj2bm70  ROR identifier (01kj2bm70, Newcastle University)

 02dxx6824  ROR identifier (02dxx6824, Scripps Research Institute)

 012a91z28  ROR identifier (012a91z28, Universidad de Zaragoza)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 CVCL_0045  SciCrunch identifier (RRID:CVCL_0045, HEK293)

 CVCL_0063  SciCrunch identifier (RRID:CVCL_0063, HEK293T)

 Q93211778  Wikidata ID

Linked Antibodies

PIDAGTypeAntigen symbolAntibody Registry IDName
umg-sfb1190-antibody-primary-0706primaryNDUFB8Anti-NDUFB8
umg-sfb1190-antibody-primary-0707primarySDHBanti SDHB
umg-sfb1190-antibody-primary-0708primaryUQCRC2QCR2; UQCR2
umg-sfb1190-antibody-primary-0710primaryACTBactin beta
umg-sfb1190-antibody-primary-0711primaryTIM22AB_11183050TIM22
umg-sfb1190-antibody-primary-0712primarySLC25A6AB_2190370ANT3Y; MGC17525