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

Molecular Vision

Volumn 19, Issue , 2013, Pages 292-303

  Chen, Yabin ^a   Jia, Xiaoyun ^a   Wang, Panfeng ^a   Xiao, Xueshan ^a   Li, Shiqiang ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; ETHNIC DIFFERENCE; EVOKED VISUAL RESPONSE; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEREDITARY OPTIC ATROPHY; HETEROZYGOSITY; HUMAN; INDEL MUTATION; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTIC ATROPHY 1 GENE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DISEASE; RETINAL NERVE FIBER LAYER THINNING; SCHOOL CHILD; SPLICING DEFECT; VISUAL ACUITY;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; CODON, NONSENSE; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GTP PHOSPHOHYDROLASES; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS;

EID: 84873549516     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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