Sort   by:  
 Page size 
TranscriptomicsArray-based resequencing of human mitochondrial disease patient samples to identify rare DNA variants
This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 39 human genes (452 exons; 106,337 bases). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, C10orf2) and new candidate genes...
ORGANISM(S): Homo sapiens 
2011-08-26 | E-MTAB-346 | biostudies-arrayexpress
TranscriptomicsArray based resequencing of 524 genes from human disease patients and healthy samples, including 5 HapMap controls to investigate use of long padlock probes (LPP) for exon capture
This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 524 human genes (5471 exons; 0.8Mb genomic DNA). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, LRRK2) and new candidate g...
ORGANISM(S): Homo sapiens 
2011-04-20 | E-MTAB-499 | biostudies-arrayexpress
TranscriptomicsA functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system
Copper is an essential component of cytochrome C oxidase (i.e. complex IV of the electron transport chain), and is thus critical for the survival of aerobic organisms. If copper is not properly regulated in the body however, it can be extremely cytotoxic and genetic mutations that compromise copper ...
ORGANISM(S): Saccharomyces cerevisiae 
2013-05-23 | E-GEOD-47175 | biostudies-arrayexpress
Sort   by:  
 Page size