Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

Molecular Vision

Volumn 16, Issue , 2010, Pages 178-183

  Gallus, Gian Nicola ^a   Cardaioli, Elena ^a   Rufa, Alessandra ^a   da Pozzo, Paola ^a   Bianchi, Silvia ^a   D'Eramo, Camilla ^a   Collura, Michele ^b   Tumino, Manuela ^c   Pavone, Lorenzo ^c   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b Italian Union of the Blind   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; OPTIC ATROPHY 1; RNA; UNCLASSIFIED DRUG; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALU SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLOR VISION DEFECT; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE INSERTION SEQUENCE; GENE LOCATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; HETEROZYGOTE; HUMAN; INTRAOCULAR HYPERTENSION; INTRON; ITALY; MALE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; FAMILY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADOLESCENT; ADULT; ALU ELEMENTS; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP PHOSPHOHYDROLASES; HUMANS; INTRONS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; YOUNG ADULT;

EID: 77949331730     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

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