Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case Report

참고문헌 (5)

1. Hartong DT, "Retinitis pigmentosa", Lancet, 368, pp.1795~1809 (2006)
2. Anderson S, "Sequence and organization of the human mitochondrial genome", Nature, 290, pp.457~465 (1981)
3. Rantamaki MT, "Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation", Ann Neurol, 58, pp.337~340 (2005)
4. "Mitochondrial DNA-associated Leigh syndrome spectrum"[URL]
5. White SL, "Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993", Am J Hum Genet, 65, pp.474~482 (1999)

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