A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

Investigative Ophthalmology and Visual Science

Volumn 43, Issue 6, 2002, Pages 1715-1724

  Thiselton, Dawn L ^a   Alexander, Christiane ^a   Taanman, Jan Willem ^a   Brooks, Simon ^a   Rosenberg, Thomas ^a   Eiberg, Hans ^a   Andreasson, Sten ^a   Van Regemorter, Nicole ^a   Munier, Francis L ^a   Moore, Anthony T ^a   Bhattacharya, Shomi S ^a   Votruba, Marcela ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GUANOSINE TRIPHOSPHATE; PROTEIN OPA1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DNA MODIFICATION; ENVIRONMENTAL FACTOR; EXON; FRAMESHIFT MUTATION; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DATA COLLECTION; DNA MUTATIONAL ANALYSIS; GENOTYPE; GTP PHOSPHOHYDROLASES; HETERODUPLEX ANALYSIS; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA;

EID: 0036268633     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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