Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles

Japanese Journal of Ophthalmology

Volumn 49, Issue 6, 2005, Pages 443-447

  Shimizu, Satoko ^a   Okinaga, Akira ^a   Maruo, Toshio ^a  

^a TEIKYO UNIVERSITY   (Japan)

Author keywords

CFEOM1; DNA sequencing; KIF21A gene; Mutation

Indexed keywords

ADULT; AGED; ARTICLE; CHILD; DNA SEQUENCE; ETHNOLOGY; EUROPE; EXON; EXTRAOCULAR MUSCLE; EYE POSITION; FAMILY; FEMALE; FIBROSIS; GENE MUTATION; HETEROZYGOSITY; HUMAN; JAPAN; MALE; MIDDLE EAST; PATIENT; POPULATION RESEARCH; PRIORITY JOURNAL; PTOSIS; RECURRENT DISEASE; RNA SPLICING; WESTERN HEMISPHERE;

ADULT; AGED; CHILD, PRESCHOOL; DNA; EXONS; FEMALE; FIBROSIS; GENETIC MARKERS; GENOTYPE; HUMANS; INFANT; KINESIN; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 29244448270     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10384-005-0243-7     Document Type: Article

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