A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
about
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaLeber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Results of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber's Hereditary Optic Neuropathy.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration.Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and agingMitochondrial DNA sequence variation in human evolution and disease.Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.Complex IV subunit 1 defect predicts postoperative survival in hepatocellular carcinoma.Finger prick blood testing in Leber hereditary optic neuropathy.The diversity present in 5140 human mitochondrial genomes.Mitochondrial gene mutations and human diseases: a prolegomenon.Mitochondrial genetics: principles and practice.When does bilateral optic atrophy become Leber hereditary optic neuropathy?
P2860
Q24676021-5F225B23-8CE4-4CE5-B443-B86E2FE4AD65Q33675684-52B92885-DF8B-40E7-9A4A-9C72D7DCF8BDQ33973515-5FDEAB5A-FBF1-46E4-9F62-40DC6845D3FEQ34495453-88925D2B-F0D0-4AE3-A158-B4885E957944Q34568296-14503846-E93C-4735-9D32-19B49520D517Q35194942-55E0A30A-488B-412D-B980-9422D6DE336FQ35196293-9F8F5B99-B656-4224-BE60-7ADD88B93102Q35238441-8BD0FFAC-A6D3-483E-A1B9-9E9C7EAF5C43Q35644545-256BBAF9-9D44-40D1-9078-75D7B70F7D0CQ35744723-F5E48746-E61F-4604-BF68-ABE6E71B3730Q36019509-88481B90-3F52-4577-94CD-4563813E6501Q37156232-59CEA57E-4A2A-4F5A-A780-02FAA7B9912FQ37719989-68ABF226-BEA9-4ADA-9479-D54EFD156B55Q39694200-A8B06E56-B1AF-4806-B791-BB5C6F2660E2Q42034984-67D8CEF8-B832-45BC-B351-FF7963C4B71EQ42557604-9C5BA58B-49A4-4F36-81EC-4A427D46C33FQ43146278-F8F06149-B599-496C-87F3-645A24F5D168Q43146868-2CE8B5D6-01CE-4FF1-BDF0-52F2352592A1
P2860
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@ast
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@en
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@nl
type
label
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@ast
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@en
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@nl
prefLabel
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@ast
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@en
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@nl
P2093
P2860
P1476
A mitochondrial DNA variant, i ...... cytochrome c oxidase subunit I
@en
P2093
P2860
P304
P407
P577
1992-08-01T00:00:00Z