单词 | Optic Atrophy,Kjer Type |
释义 | Optic Atrophy,Kjer Type《英文msh词典》Optic Atrophy,Kjer Type [入口词] Optic Atrophy,Kjer Type [主题词] Optic Atrophy,Autosomal Dominant [英文释义] Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity,color vision deficits,a centrocecal scotoma,and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. |
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