Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
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Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutationVery low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation.Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.The role of mitochondrial tRNA mutations in lung cancerLeber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.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.Variations in mitochondrial tRNA(Thr) gene may not be associated with coronary heart disease.Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.
P2860
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P2860
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@ast
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@en
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@nl
type
label
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@ast
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@en
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@nl
prefLabel
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@ast
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@en
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@nl
P2093
P2860
P1433
P1476
Extremely low penetrance of Le ...... ying the ND4 G11778A mutation.
@en
P2093
Constance E West
Fuxin Zhao
Juanjuan Zhang
Min-Xin Guan
Qi-Ping Wei
Xiangtian Zhou
Yan-Hong Sun
P2860
P304
558-564.e3
P356
10.1016/J.OPHTHA.2008.10.022
P577
2009-01-22T00:00:00Z