A complex v ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

Brain

Volumn 136, Issue 5, 2013, Pages 1544-1554

  Jonckheere, An I ^a   Herma Renkema, G ^a   Bras, Maaike ^a   Van Den Heuvel, Lambert P ^a   Hoischen, Alexander ^b   Gilissen, Christian ^b   Nabuurs, Sander B ^b   Huynen, Martijn A ^b   De Vries, Maaike C ^a   Smeitink, Jan A M ^a   Rodenburg, Richard J T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

complex V; functional genomics; mitochondrial disease; next generation sequencing

Indexed keywords

ATP5A1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA DETERMINATION; ENZYME ANALYSIS; EXOME; FATALITY; FIBROBLAST; GENE EXPRESSION PROFILING; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MITOCHONDRIAL ENCEPHALOPATHY; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; OPEN READING FRAME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING;

EID: 84877308260     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt086     Document Type: Article

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