Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China.

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Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

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Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

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Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

@en

Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

@nl

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Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

@en

Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

@nl

P1476

Analysis of Genetic Mutations ...... Neuropathy in Shanghai, China.

@en

P2093

Dekang Gan

http://www.w3.org/2001/XMLSchema#string

Jihong Wu

http://www.w3.org/2001/XMLSchema#string

Mengwei Li

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P2860

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees.

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

P304

6186052

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P31

scholarly article

P356

10.1155/2017/6186052

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P478

2017

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P50

Guohong Tian

Xinghuai Sun

P577

2017-12-04T00:00:00Z

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P698

29348930

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P932

5733633

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