Title: Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
Authors: Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC
Journal: Proc Natl Acad Sci U S A
Published: 2011-04-19
Volume: 108
Pages: 6543-8