Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

American Journal of Human Genetics

Volumn 81, Issue 5, 2007, Pages 1098-1103

  Chakarova, Christina F ^a   Papaioannou, Myrto G ^a   Khanna, Hemant ^b   Lopez, Irma ^c   Waseem, Naushin ^a   Shah, Amna ^a,b   Theis, Torsten ^a   Friedman, James ^b   Maubaret, Cecilia ^a   Bujakowska, Kinga ^a   Veraitch, Brotati ^a   Abd El Aziz, Mai M ^a   De Prescott, Quincy ^a   Parapuram, Sunil K ^b   Bickmore, Wendy A ^d   Munro, Peter M G ^a   Gal, Andreas ^e   Hamel, Christian P ^f   Marigo, Valeria ^g   Ponting, Chris P ^h   Wissinger, Bernd ⁱ   Zrenner, Eberhart ⁱ   Matter, Karl ^a   Swaroop, Anand ^a,b   Koenekoop, Robert K ^c   Bhattacharya, Shomi S ^a,j   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MICHIGAN   (United States)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f INSERM   (France)

^g UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^j INSTITUT DE LA VISION   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; MUTANT PROTEIN; TOPOISOMERASE I BINDING RS PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOINFORMATICS; CHROMOSOME 9P; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; MOLECULAR CLONING; PRIORITY JOURNAL; PROMYELOCYTIC LEUKEMIA; PROTEIN DOMAIN; PROTEIN EXPRESSION; RETINA; RETINA DISEASE; RETINAL PIGMENT EPITHELIUM ATROPHY; RETINITIS PIGMENTOSA;

EID: 35348856877     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/521953     Document Type: Article

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