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The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

Author
JIA QU1 2 ; RONGHUA LI3 ; XIANGTIAN ZHOU1 ; YI TONG1 4 ; FAN LU1 ; YAPING QIAN3 ; YONGWU HU2 ; JUN QIN MO5 6 ; WEST, Constance E6 7 ; GUAN, Min-Xin2 3 6
[1] School of Ophthalmology and Optometry, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
[2] Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China
[3] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
[4] The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China
[5] Dvision of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
[6] Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States
[7] Division of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
Source

Investigative ophthalmology & visual science. 2006, Vol 47, Num 2, pp 475-483, 9 p ; ref : 46 ref

CODEN
IOVSDA
ISSN
0146-0404
Scientific domain
Ophthalmology
Publisher
Association for Research in Vision and Ophtalmology, Rockville, MD
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Association Mitochondrie Mutation Ophtalmologie Phénotype
Keyword (en)
Association Mitochondria Mutation Ophthalmology Phenotype
Keyword (es)
Asociación Mitocondria Mutación Oftalmología Fenotipo
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs / 002A25I Eye and associated structures. Visual pathways and centers. Vision

Discipline
Vertebrates : nervous system and sense organs
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
17455431

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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