A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 12, 2010, Pages 6369-6373

  Christensen, Anne E ^a,b   Fiskerstrand, Torunn ^a   Knappskog, Per M ^a,b   Boman, Helge ^a,b   Roødah, Eyvind ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; ADAMTSL4 PROTEIN; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ANTERIOR EYE CHAMBER ANGLE; ARTICLE; ASTIGMATISM; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE ECTOPIA LENTIS ET PUPILLAE; BASE PAIRING; CARBOXY TERMINAL SEQUENCE; CATARACTOGENESIS; CHROMOSOME 1; CLINICAL ARTICLE; COLOBOMA; CONTROLLED STUDY; CORNEA THICKNESS; DISEASE ASSOCIATION; DNA SEQUENCE; ECTOPIA LENTIS; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GLAUCOMA; HETEROZYGOTE; HUMAN; IRIS DISEASE; LENS DISEASE; LENS LUXATION; MALE; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; PUPIL DISEASE; RETINA DETACHMENT; SPHEROPHAKIA; STOP CODON;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PUPIL DISORDERS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; THROMBOSPONDINS;

EID: 79955978903     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5597     Document Type: Article

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