Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
about
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.Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathyLeber'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.Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA 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.Mitochondrial DNA sequencing and large-scale genotyping identifies MT-ND4 gene mutation m.11696G>A associated with idiopathic oligoasthenospermia.The Progress of Gene Therapy for Leber`s Optic Hereditary Neuropathy.Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
P2860
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P2860
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@ast
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@en
type
label
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@ast
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@en
prefLabel
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@ast
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@en
P2093
P2860
P1433
P1476
Cosegregation of the ND4 G1169 ...... our generation Chinese family.
@en
P2093
Chunjie Lu
Fuxing Zhao
Min-Xin Guan
Ronghua Li
Xiangtian Zhou
Yaping Qian
P2860
P304
P356
10.1016/J.MITO.2006.11.015
P577
2006-12-08T00:00:00Z