Ratings
0
Nobody has rated this yet. Be the first!
Works
3
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy