SCOPUS 정보 검색 플랫폼

Volumn 109, Issue 5, 2001, Pages 498-502

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: Evidence for a founder effect

(10) Thiselton, D L a Alexander, C a Morris, A a Brooks, S a Rosenberg, T a Eiberg, H a Kjer, B a Kjer, P a Bhattacharya, S S a Votruba, M a

a UNIVERSITY COLLEGE LONDON (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYNAMIN; GUANOSINE TRIPHOSPHATASE;

ARTICLE; CENTRAL SCOTOMA; CHROMOSOME 3Q; CLINICAL ARTICLE; COLOR VISION DEFECT; CONTROLLED STUDY; DENMARK; DNA FLANKING REGION; DOMINANT INHERITANCE; EXON; FAMILY; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEGREGATION; GENE SEQUENCE; GENETIC CODE; GENETIC COUNSELING; GENETIC DISORDER; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC SCREENING; GEOGRAPHY; HAPLOTYPE; HETERODUPLEX ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PALLOR; PEDIGREE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; VISUAL ACUITY;

ALLELES; BASE SEQUENCE; DENMARK; DNA; EXONS; FEMALE; FRAMESHIFT MUTATION; GTP PHOSPHOHYDROLASES; HAPLOTYPES; HUMANS; MALE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PREVALENCE;

DOA;

EID: 0035182161 PISSN: 03406717 EISSN: None Source Type: Journal
DOI: 10.1007/s004390100600 Document Type: Article

Times cited : (52)

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