Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia

Ophthalmic Genetics

Volumn 37, Issue 1, 2016, Pages 68-75

  Katagiri, Satoshi ^a,b   Hayashi, Takaaki ^b   Yoshitake, Kazutoshi ^c   Akahori, Masakazu ^a   Ikeo, Kazuho ^c   Gekka, Tamaki ^b   Tsuneoka, Hiroshi ^b   Iwata, Takeshi ^a  

^a NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

C8orf37; early onset retinal dystrophy; mutation; whole exome sequencing

Indexed keywords

ADULT; ARTICLE; CATARACT; CHROMOSOME 8; CONTROLLED STUDY; DELETION MUTANT; EARLY ONSET RETINAL DYSTROPHY; ELECTRORETINOGRAPHY; EXOME; EXON; EYE EXAMINATION; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; HIGH MYOPIA; HUMAN; INTRON; JAPANESE (PEOPLE); MACULAR DEGENERATION; MALE; OPEN READING FRAME; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; SIBLING; VISUAL ACUITY; VISUAL FIELD; DNA MUTATIONAL ANALYSIS; FLUORESCENCE ANGIOGRAPHY; GENETICS; GEOGRAPHIC ATROPHY; MOLECULAR GENETICS; MUTATION; MYOPIA, DEGENERATIVE; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; RETINAL DYSTROPHIES;

C8ORF37 PROTEIN, HUMAN; PROTEIN;

ADULT; BASE SEQUENCE; CATARACT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXOME; FEMALE; FLUORESCEIN ANGIOGRAPHY; GEOGRAPHIC ATROPHY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOPIA, DEGENERATIVE; PEDIGREE; PROTEINS; RETINAL DYSTROPHIES; SIBLINGS; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS;

EID: 84960347536     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2014.949380     Document Type: Article

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