about
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaHereditary optic neuropathies.Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.Organic acidurias and related abnormalities.Childhood optic atrophy.A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.Optic neuropathy in methylmalonic acidemia: the role of neuroprotection
P2860
Q24291826-FDD5992E-E55F-4C88-8DCF-A5D8D0AAF02AQ30494546-225BB4DC-FF24-4231-A28E-3F9DDC34B686Q33571542-0CE73993-9EC9-4FAC-A81B-064B580C1DE4Q37704828-652E2627-D70C-4C2D-8BBE-8065936AF897Q40422979-0EA8FE67-86DE-4F9B-B0B2-AA572C141768Q48883837-0DFFBA3C-6587-415B-8422-499DF9FC5920Q50356424-E4818B0E-27C3-42C4-B555-6E02914A30C7Q58979131-69B59912-BDCD-4C2E-AB50-A9A7E9F5BEFA
P2860
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
3-Methylglutaconic aciduria in "optic atrophy plus".
@en
3-Methylglutaconic aciduria in "optic atrophy plus".
@nl
type
label
3-Methylglutaconic aciduria in "optic atrophy plus".
@en
3-Methylglutaconic aciduria in "optic atrophy plus".
@nl
prefLabel
3-Methylglutaconic aciduria in "optic atrophy plus".
@en
3-Methylglutaconic aciduria in "optic atrophy plus".
@nl
P2093
P356
P1433
P1476
3-Methylglutaconic aciduria in "optic atrophy plus".
@en
P2093
P2860
P304
P356
10.1002/ANA.410330117
P577
1993-01-01T00:00:00Z