A novel CACNA1F gene mutation causes Åland Island eye disease

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 6, 2007, Pages 2498-2502

  Jalkanen, Reetta ^a,b,c   Bech Hansen, N Torben ^d   Tobias, Rose ^d   Sankila, Eeva Marja ^a,b   Mäntyjärvi, Maija ^e   Forsius, Henrik ^b   De La Chapelle, Albert ^f   Alitalo, Tiina ^a,c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF CALGARY   (Canada)

^e UNIVERSITY OF EASTERN FINLAND   (Finland)

^f OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CACNA1F PROTEIN; CALCIUM CHANNEL; COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN DERIVATIVE; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; CACNA1F PROTEIN, HUMAN; CALCIUM CHANNEL L TYPE;

ALAND ISLAND EYE DISEASE; ALLELE; ARTICLE; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DELETION MUTANT; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; EXON; EYE DISEASE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; HUMAN CELL; INTRON; LYMPHOBLAST; MALE; MEMBRANE STRUCTURE; NIGHT BLINDNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; X CHROMOSOME LINKED DISORDER;

CALCIUM CHANNELS, L-TYPE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTRONS; MALE; MUTATION; NIGHT BLINDNESS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION;

EID: 34347251602     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-1103     Document Type: Article

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