Array-based resequencing of human mitochondrial disease patient samples to identify rare DNA variants

ABSTRACT: 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 for mtDNA maintenance disorders. We sequenced 27 patient (P) and 13 control (C) samples using this array.

ORGANISM(S): Homo sapiens

DISEASE(S): mitochondrial disease

SUBMITTER: Curt Scharfe 

PROVIDER: E-MTAB-346 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress