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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 Wikidata
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
ScholiaScholia Wikidata-based representation at Scholia

 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)

 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