4 research outputs found
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Get PDFProminent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing
No full textUnique mitochondrial DNA in highly inbred feral cattle
No full textThe Chillingham herd of wild Northumbrian cattle remains viable despite over 300 years of in-breeding and a near-homozygous nuclear genome. Here we report the complete mitochondrial DNA sequence using ultra-deep next generation sequencing. Random population sampling of ~10% of the extant herd identified a single mtDNA haplotype harbouring a unique bovine variant present in all other higher mammals (m.11789C/Y421H) which may contribute to their survival
