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Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Baris O, et al. Among authors: reynier p. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560
mtDNA haplogroup J: a contributing factor of optic neuritis.
Reynier P, Penisson-Besnier I, Moreau C, Savagner F, Vielle B, Emile J, Dubas F, Malthièry Y. Reynier P, et al. Eur J Hum Genet. 1999 Apr;7(3):404-6. doi: 10.1038/sj.ejhg.5200293. Eur J Hum Genet. 1999. PMID: 10234520
348 results