A novel PIKFYVE mutation in fleck corneal dystrophy

Molecular Vision

Volumn 17, Issue , 2011, Pages 2776-2781

  Kotoulas, Andreas ^a,b   Kokotas, Haris ^c   Kopsidas, Konstantinos ^b   Droutsas, Konstantinos ^b   Grigoriadou, Maria ^c   Bajrami, Hasret ^d   Schorderet, Daniel F ^d,e   Petersen, Michael B ^c  

^a General Hospital of Nafplio   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d Institute for Research in Ophthalmology   (Switzerland)

^e UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; ASYMPTOMATIC DISEASE; CATARACT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DYSTROPHY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EYE EXAMINATION; FAMILIAL DISEASE; FEMALE; FLECK CORNEAL DYSTROPHY; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEGREGATION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; GREECE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHOSPHOINOSITIDE KINASE FIVE FINGER CONTAINING GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP;

AGED; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FEMALE; GREECE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES;

EID: 83055178382     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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