Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Nakamura K, Kishita Y, Sugiura A, Ozaki K, Yatsuka Y, Matsumoto N, Okazaki A, Prokisch H, Maruyama K, Iwasa H, Murayama K, Matsumoto H, Ohtake A, Shiraishi Y, Okazaki Y.