Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy

Molecular Vision

Volumn 14, Issue , 2008, Pages 2451-2457

  Li, Yang ^a,b   Deng, Ting ^a   Tong, Yi ^c   Peng, Shuling ^a   Dong, Bing ^a   He, Dacheng ^b,d  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b BEIJING NORMAL UNIVERSITY   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

^d NONE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; NUCLEAR PROTEIN; PROTEIN OPA1; RNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; INTRON; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; NONSENSE MUTATION; PALLOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; VISUAL IMPAIRMENT;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FUNDUS OCULI; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES;

EID: 58049211929     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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