C21orf2 is mutated in recessive earlyonset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

British Journal of Ophthalmology

Volumn 99, Issue 12, 2015, Pages 1725-1731

  Khan, Arif O ^a   Eisenberger, Tobias ^b   Nagel Wolfrum, Kerstin ^c   Wolfrum, Uwe ^c   Bolz, Hanno J ^b,d  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b Bioscientia Center for Human Genetics   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROTEIN C21ORF2; UNCLASSIFIED DRUG; C21ORF2 PROTEIN, HUMAN; PROTEIN;

ADULT; ANIMAL TISSUE; ARTICLE; AUTOFLUORESCENCE IMAGING; C21ORF2 GENE; CASE REPORT; CASE STUDY; CATARACT; CELLULAR DISTRIBUTION; CENTRIOLE; CHILD; EARLY ONSET RETINAL DYSTROPHY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE PRODUCT; GENETIC ASSOCIATION; GENETIC CODE; HEADACHE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERMETROPIA; IMMUNOHISTOCHEMISTRY; KINETOSOME; MACULAR STAPHYLOMA; MISSENSE MUTATION; MOUSE; MYOPIA; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; ONSET AGE; PHOTORECEPTOR PRIMARY CILIUM; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA; RETINA DISEASE; RETINA DYSTROPHY; RETINA EXAMINATION; RETROSPECTIVE STUDY; SCHOOL CHILD; SHORT STATURE; VISUAL ACUITY; AMINO ACID SEQUENCE; ANIMAL; CONSANGUINITY; DONOR; ELECTRORETINOGRAPHY; GENETICS; LESIONS AND DEFECTS; METABOLISM; MOLECULAR GENETICS; OPTICAL COHERENCE TOMOGRAPHY; PATHOLOGY; PEDIGREE; PHOTORECEPTOR CONNECTING CILIUM; PIG; POLYMERASE CHAIN REACTION; RECESSIVE GENE; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BLOTTING, WESTERN; CHILD; CONSANGUINITY; DILATATION, PATHOLOGIC; ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE IMAGING; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHOTORECEPTOR CONNECTING CILIUM; POLYMERASE CHAIN REACTION; PROTEINS; RETINA; RETINAL DYSTROPHIES; RETROSPECTIVE STUDIES; SUS SCROFA; TISSUE DONORS; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84948754982     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2015-307277     Document Type: Article

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