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Leber s congenital amaurosis
LE WE PMID CA
Leber s congenital amaurosis6741Leber Kongenitale Amaurose

Autosomal dominant optic atrophy

Cybrid

Leber s congenital amaurosis

Mitochondria (Mitochondriopathy)

NADH quinone oxidoreductase deficiency

NADPH quinone oxidoreductase

OPA1

Optic atrophy

RPE65

2005  
1
[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].
[15767905] J Fr Ophtalmol 28(1): 98-105 (2005)
2006  
2
Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.
[16424523] Br J Ophthalmol 90(2): 150-3 (2006)
2003  
3
Clinical features of Leber's hereditary optic neuropathy with the 11778 mitochondrial DNA mutation in Taiwanese patients.
[12656308] Chang Gung Med J 26(1): 41-7 (2003)
2010  
4
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
[20399883] Prog Retin Eye Res 29(5): 398-427 (2010)
2011  
5
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
[21112411] Prog Retin Eye Res 30(2): 81-114 (2011)
2011  
6
LHON: Mitochondrial Mutations and More.
[21886454] Curr Genomics 12(1): 44-54 (2011)
2009  
7
Inherited mitochondrial optic neuropathies.
[19001017] J Med Genet 46(3): 145-58 (2009)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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